Thalassemia

The use of psychological treatment to help people manage thalassemia

2012-03-26T03:18:00.000-07:00

Plain Language Summary

Thalassaemia is a group of genetic blood disorders. Blood transfusion is needed for serious forms of the condition treated, but it leads to a high level of iron in the body. The excess iron is usually removed by drugs through 'chelation therapy'. Other less conventional treatment is bone marrow transplantation, which is restricted by age, and hydroxyurea, a drug designed to raise the level of fetal hemoglobin in collecting and anemia reduction . Psychological support would seem appropriate that thalassemia is a chronic disease with a major role for the control of a self-management. We were unable to find any trials to include in this review. There is a some reports that people learn about their condition improve compliance with chelation therapy. But from the information currently available, we can not recommend the use of specific psychological therapy in thalassemia. We believe there is a need for a big test the value of psychological therapy for thalassemia evaluate.

Abstract

Background: Thalassaemia is a group of genetic blood disorders characterized by the absence or reduction in the production of hemoglobin. Severity is variable from less severe anemia by thalassemia intermedia, deeply serious anemia (thalassemia major). In thalassemia major other complications that delayed growth, bone deformation, and an enlarged spleen. Blood transfusion is needed for severe forms of thalassemia treatment, but this results in excessive accumulation of iron in the body (iron overload), removed mostly by a drug called Desferrioxamine by chelation therapy. Non-routine treatment is bone marrow transplantation (that age limit), and possibly hydroxyurea, designed to raise the level of fetal hemoglobin to raise, and thus anemia. In addition, psychological therapy seems appropriate for improving the outcome and adherence to medical treatment.

Objectives: proof that people with thalassemia, psychological treatments improve the ability to handle the situation, and the improvement of both the medical and psychosocial outcomes research.

Search methods: We went to the Cochrane cystic fibrosis and genetic disorders haemoglobinopathies Group Trials Register comprising references from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings. Search the Internet are also exported.

Date of most recent search of the Group's Trials Register haemoglobinopathies: October 27, 2011.

Selection criteria: All randomized or quasi-randomized controlled trials comparing the use of psychological intervention (psychological) intervention in people with thalassemia.

Data collection and analysis: No trials of psychological therapy were found in the literature for inclusion in this review.

Main results: There are currently no results reported.

Authors' conclusions: As a chronic disease with a major role for the control of a self-psychological support seems appropriate for the management of thalassemia. But from the information currently available, no conclusions about the use of specific psychological therapy in thalassemia. This systematic review has clearly identified the need for well designed, adequately powered, multicenter, randomized controlled trials to assess the efficacy of specific psychological interventions for thalassemia.

Demography

2012-03-25T08:11:00.000-07:00

Thalassemia trait is found in all populations, but it is most common in people from the following origins:

* Southeast Asia (Vietnam, Laos, Thai, Singaporean, Filipino, Cambodia, Malaysia, Burma,and Indonesia)
* Chinese
* East India
* African
* Middle East
* Greek
* Italian
* Trans Caucasian (Georgian, Armenian and Azerbaijani)

There are two main types of thalassemia trait: alpha thalassemia and beta thalassemia trait characteristic. Individuals who have beta thalassemia trait have a normal beta globin gene and one such that little or no beta globin change. There are subtypes of alpha thalassemia trait. Individuals with alpha thalassemia silent trait 'lacks an alpha globin genes. When two alpha globin genes are missing, an individual said that alpha thalassemia trait might have. There are two different ways as well. The 'cis' type of alpha thalassemia trait occurs when two genes of the same chromosome missing. This type is most common in those from Southeast Asia, Chinese, or Mediterranean descent. The "trans"-type of alpha thalassemia trait occurs when two genes from different chromosomes is missing. This type is most common in African Americans.

Thalassemia trait is generally not thought to cause health problems, although women with the trait more likely to have anemia of pregnant women develop without the characteristic can be. Obstetricians sometimes treated with folate supplementation. Most types of thalassemia traits cause the red blood cells to be smaller in size than normal, a condition called microcytosis. Sometimes it is incorrectly referred to as "low blood". Since iron deficiency is the most common cause of microcytosis, doctors sometimes mistakenly prescribe iron supplements to individuals with thalassemia trait. Iron supplements for that reason, doctors must rule out thalassemia trait and / or perform laboratory tests to evaluate iron levels. A person with thalassemia trait can also iron deficient, but if he or she is, iron supplements can lead to an excess of body iron. Excess iron can deposit in many parts of the body, causing organ damage in the long term.

The inheritance of thalassemia

The instructions for alpha globin production are present in duplicate, two genes on each chromosome 16 for a total of four. The instructions for beta globin production on chromosome 11, one gene on each chromosome for a total of two.

Half a woman's genetic information in each egg, including one chromosome 11 and chromosome 16. The same applies to the formation of the seed. At fertilization, the total recovery of 46 chromosomes. Which chromosome 11 or 16 are transferred randomly determined. There is nothing a mother or father (or not do) to establish that chromosome, and therefore which allele is transmitted to his or her children.

The recessive inheritance

The thalassemias are a group of recessively inherited conditions. Remember that genes come in pairs. In recessive both members of the pair associated with the condition should be changed, or mutated. This is a difference of a dominant position, only one copy of the gene needs to be changed in order to manifest symptoms.

In recessive conditions, a favorable trait or carrier state exists where an individual has both a normal and a mutated copy of the gene. The term "normal" is a convention to describe only the copy of the gene, an allele is called, which is most often seen in the general population. The normal allele is able to compensate for the missing or altered function of the mutant allele. Therefore, the individual with the characteristic symptoms seen in the disease. It is generally thought that each of us carry 7-8 of these recessive traits that disease if present in a "double dose causes."

It is not uncommon for a person with a recessive disease for the first person in his or her family, the condition to be. Typically, this happens when both parents carry the trait. This is a difference of a dominant inherited condition in which the members of a family in several successive generations are affected.

Some recessive conditions
Attached earlobes
Sickle cell anemia
Cystic fibrosis
Thalassemia

Some dominant conditions
Tongue rolling (try)
Huntington's disease

The different cultures of thalassemia

2012-03-25T07:54:00.000-07:00

Traditionally thought of thalassemia is a disease that is effecting populations bordering the Mediterranean. But, at the Northern California Comprehensive Center at CHRCO thalassemia, 80% of the patient population is of Asian origin. Many of these individuals recent immigrants to the United States and almost half do not speak English. It represents two major hurdles in providing health care to our patients:

* Accurate translation of the patient and medical information during patient visits, and
* Differences between Eastern and Western health beliefs.

Thalassemia is a complex disease that requires an understanding of genetics and biology to understand thoroughly. Unfortunately, many Asian and Southeast Asian languages, especially those in rural areas are spoken, not include the vocabulary of modern medical and technical terms, so the ability to accurately translate disease and treatment information is difficult.
In order to translate these problems to overcome, we try to interpreters who have medical training to use, so they are more equipped to help our patients understand thalassemia. We also see information annually in the hope that any confusion can be identified and explained.

cultural differences

Cultural beliefs of our patients with respect to the origin of thalassemia and its treatment often differs from that of Western medicine. Care must be provided in a manner that a respect for the patient's cultural beliefs with an accepted medical practice integration. The diversity of the Asian population (Lao Mien, Khmu, Chinese, Hmong, etc..) Increase the complexity of delivering culturally sensitive care more.

Iron and thalassemia

2012-03-24T04:11:00.000-07:00

Thalassemia and iron metabolism are closely linked. Iron deficiency and mild forms of thalassemia (eg, thalassemia trait) are often confused. Both are associated with mild anemia and microcytosis (small red cells) to moderate. On the other side of the spectrum, severe forms of thalassemia often iron overload.Excess iron accumulates due to increased iron uptake by thalassemia, blood transfusions or both repeats. A number of questions frequently asked about thalassemia and iron.

If a person with thalassemia trait iron, as iron-fortified vitamins to avoid?
Iron replacement tablets or iron supplemented vitamins to be taken only as directed by a physician actual iron deficiency to treat or prevent iron deficiency in high-risk conditions (eg, pregnancy). People with thalassemia trait (thalassemia minor) is not necessarily a greater risk of complications of iron in the diet than anyone else in the general population. There are cases, however, in which coincident conditions can increase the risk of iron overload. For example, people with thalassemia trait also the genes for hereditary hemochromatosis site collects hazardous levels of iron by the use of dietary iron supplements.

Can thalassemia anemia by corrected or improved by more iron?
In the absence of a concomitant iron deficiency, iron supplements will not correct the anemia due to thalassemia does not improve. For people with both iron deficiency and thalassemia iron substitution on the severity of anemia decreased until the iron deficiency is corrected. The blood count will level off and no further improvement will occur.

What is the best treatment for a person with severe thalassemia (thalassemia major. Or thalassemia intermedia) that accumulate too much iron?
Excess iron accumulates a leading cause of clinical deterioration and often death in patients with severe forms of thalassemia. The excess iron can be removed from the patient's body only by an iron-binding drugs called chelators. The most widely used chelator is Desferrioxamine, whose trade name Desferal ® We.These medications can prevent many of the complications associated with iron overload. The drug is most effective when daily over periods ranging from 12 to 16 hours. A special pump that the patient wear, the medication slowly under the skin. Desferal ® as an intravenous infusion at the time of transfusion was given.This method of delivery does not effectively remove iron. Desferal ® is not effective when given by mouth. A new oral agent called L1 or deferipone still people to be tested. The drug effectively remove iron from many patients with significant iron overload. The key unknown with this agent is its safety.

How Do People Get Thalassemia

2012-03-24T03:54:00.000-07:00

Thalassemia is a hereditary condition. The genes received from one's parents before birth determine whether a person will have thalassemia. Thalassemia can not be caught or to another person transferred. The clinical severity of thalassemia varies tremendously depending on the exact nature of the genes that a person stand.

How are genes inherited?

At the moment of conception, a person receiving a set of genes from the mother (egg) and a corresponding set of genes from the father (sperm). The combined effects of many genes determine a few characteristics (hair color and height for example). Properties determined by a combination of genes often gradations in size (the difference between Michael Keaton and Kareem Abdul-Jabbar, for instance). Other features are determined by a single gene pair (a person's gender, for example). A person is either a biological male or female.
The inheritance in patients with thalassemia is complicated because two sets of genes on different chromosomes cooperate to produce hemoglobin. A defect anywhere in the complex can produce thalassemia. The expression of thalassemia seems therefore that the better informed, with gradations in effect.

Inheritance of hemoglobin

The genes involved in thalassemia control the production of a protein in red cells called hemoglobin. Hemoglobin binds oxygen in the lungs and releases it when the red cells reach peripheral tissues like the liver. The binding and release of oxygen by hemoglobin is essential for survival.
Each hemoglobin molecule contains four subunit proteins. Two of the subunit proteins known as the Alpha and the two are called beta. Hemoglobin binds oxygen properly and set only when two alpha subunits are linked to two beta subunits. A pair of genes on chromosome # 16, production of the alpha subunits of hemoglobin control. A single gene on chromosome # 11 controls the production of hemoglobin beta subunit

All cells contain pairs of idential chromosomes, one from the father and the mother. Each chromosome contains thousands of genes in order appear. As shown in Figure 1, each person has two beta globin genes, one from the father and the mother. Since each chromosome # 16 has two alpha globin genes, each person has four of these genes. One chromosome # 16 comes from the father, so that two alpha globin genes to the offspring. One chromosome # 16 comes from the mother and two alpha globin genes contribute to the offspring.

A complete hemoglobin molecule four subunits: two alpha and beta. The two beta globin genes also contribute to the production of beta globin subunit proteins. The alpha globin genes together produce an amount of alpha globin protein that exactly the beta globin protein equals. Since there are four alpha globin genes compared with two beta globin genes, each alpha globin not only produce about half as much protein as a beta globin gene. This keeps the total production of equal subunits of each set of chromosomes

Thalassemia occurs when one or more of the genes failed to produce proteins, leading to a shortage of one of the subunits. As one of the beta-globin genes, then the condition is called beta thalassemia. Beta thalassemia, therefore, is due to a shortage of beta subunits. If an alpha globin gene, the condition called alpha thalassemia. In this case, a deficiency of alpha subunits occur.

Life Stages

2012-03-24T00:46:00.000-07:00

Infancy

Most families find out about their child's diagnosis shortly after birth. Even for families who may be familiar with thalassemia, it can be a difficult time. Adapting to a new diagnosis can be challenging. You will be lots of new information and meeting lots of new health care. Expect your child to achieve normal developmental milestones.

What you can do:

    1. Use your support network. Talk with family and friends that are useful in the past. You may even in part of your support network to bring when you see the doctor. If you have someone with your child's illness do not know, think about asking your doctor's office to set to a different family.

    2. It is good to ask questions and to more than once to ask. Try to pay attention to how you manage information, some families prefer to provide information in writing, some families prefer less information at once to hear. If you know your favorite, share it with your health care.

    3. Take care of yourself. Your ability to care for your child directly related to how you do. Take time to relax, take part in fun activities and enjoy the new family member.

Toddlerhood

Children at this age is the test of their environment that they can do and test their parents for what they are allowed to do. Children are unable to fully understand why they need to go to the hospital, and why the things that are uncomfortable to have them (needle sticks, examinations). You can find increased resistance to invasive procedures like blood transfusions or draw. If your child is on chronic transfusions, you can start using Desferal during this time at home. It can be hard to make your own child to love, both physically and emotionally.
If your child attends daycare, you will need to think about the kind of information you feel comfortable sharing about your child's illness.

What you can do:

   1. Medical play can help your child to medical procedures to master. Have a child life specialist in psychosocial provider or hospital in your work with your child for medical game. It can also be useful to a toy medical bag at the house.

   2. During procedures or IV to help your child manage stress by distracting them with books, songs toys.

   3. Talk with your health care over what you share with daycare centers, babysitters, etc..

   4. Continue Age appropriate behavior from your child to expect and fear not set limits.

School Years

Children during this year they look for good in math, reading, sports, arts, help around the house, etc.. The need for a sense of mastery also extends to a child's illness. Children will want more control over the procedures and have many more questions about why the procedures and tests done. School children are more to look at their peers to determine their competency in the academic and social arenas. Children will begin to notice things that their peers do not come to the hospital, as they do and ask questions about this. As children get older, their cognitive development change, and they have a different understanding of themselves and their environment. You can ask the same questions many times.

What you can do:

   1. Help your child something they are good to encourage their interests.

   2. Try to make your child more choices, and thus control over their medical care. For example, give your child a choice about where the IV should be placed.

   3. Listen and take seriously your child's questions about their illness and medical care. Answer questions as clearly and honestly as you can. If you are unsure of the answer or how to best talk to your child about an issue, talk with your health care provider.

Adolescence

Many parents and patients say the teens are the most difficult time for families. Families struggling with the shift of responsibility and control over the illness, academic progress, and social activities. If teens more responsible for their illness, the fulfillment of a problem. Teens spend less time at home, more oriented toward their peers and are motivated to be like their peers. All these factors can lead to non-compliant behavior. Adolescents begin to think more like adults and adult concepts of disease and death to understand. While teenagers can cognitively understand abstract concepts, many feel protected from adverse effects that can lead to risk behaviors, including experimenting with drugs and alcohol, sexual and aggressive behavior.

What you can do as a parent:

    1. Continue to negotiate with your child responsibility for disease.

    2. Let your teen start independent relationships with his or her health care, it can help you negotiate the transfer of care to your child and give him / her a private and safe place for any concerns.

    3. Get information and support from other parents going through this difficult time.

    4. Not hesitate to ask your family to meet with a psychosocial provider to help this year to manage.

Maturity

The responsibilities of adult life can get even more complicated in the presence of a chronic disease. Adults face the challenge of maintaining relationships, work, medical insurance and the management of an often complex medical illness. For some, the attainment of maturity means a change in their system of medical care from a pediatric environment to an adult institution. Compliance with medical management remains a problem as patients balance the issues of the use of invasive medical procedures and the quality of life. Please read Proposal: Life as an adult in Pediatric World in our patient Forum Section

HEMOGLOBIN

2012-03-22T04:08:00.000-07:00

What is hemoglobin?

Hemoglobin is the protein molecule in red blood cells that carries oxygen from the lungs to the body's tissues and returns carbon dioxide from the tissues to the lungs.

Hemoglobin consists of four protein molecules (globulin chains) that are connected. The normal adult hemoglobin (HBG) molecule contains two alpha-globulin chains and two beta globulin chains. In fetuses and infants, there are only a few beta-chains and the hemoglobin molecule made of two alpha chains and two gamma chains. As the baby grows, gradually gamma chains replaced by beta-chains.

Each globulin chain contains an important central structure called the heme molecule. Embedded within the heme molecule is iron that oxygen and carbon dioxide transported in the blood. The iron in hemoglobin is responsible for the red color of blood.

The hemoglobin also plays an important role in maintaining the shape of red blood cells. Abnormal hemoglobin structure can disrupt the shape of red blood cells and interfere with the function and flow through the arteries.

How is hemoglobin measured?

Hemoglobin is usually measured as a part of the complete blood count (CBC) of a blood sample.

Several methods exist for measuring hemoglobin, most of which currently automatic machine designed for different tests to be carried out on blood taken.Inside the machine, the red blood cells are broken down hemoglobin into a solution to get. The free hemoglobin is exposed to a chemical with cyanide that is tightly bound to the hemoglobin molecule to form cyanmethemoglobin. By shining a light through the solution and measuring how much light is absorbed (specifically at a wavelength of 540 nanometers), the amount of hemoglobin can be determined.

What is normal hemoglobin values?

The hemoglobin level is expressed as the amount of hemoglobin in grams (GM) per deciliter (dl) of the whole blood, a deciliter 100 milliliters.

The normal ranges for hemoglobin depend on the age and begins in adolescence, the sex of the person. The normal ranges are:

Newborns: 17-22 gm / dl

One (1) week of age: 15-20 gm / dl

One (1) month of age: 11-15gm/dl

Children: 11-13 gm / dl

Adult males: 14-18 gm / dl

Adult women: 12-16 gm / dl

Men after middle age: 12.4 to 14.9 gm / dl

Women of the Middle age: 11.7 to 13.8 gm / dl
All these values can vary slightly between laboratories. Some laboratories do not distinguish between adult and "after middle age" hemoglobin values.

What does a low hemoglobin level?

A low hemoglobin is referred to as anemia. There are many reasons for anemia.

Some of the more common causes are:

loss of blood (traumatic injury, surgery, bleeding colon cancer or ulcer)

nutritional deficiencies (iron and vitamin B12, folate)

bone marrow problems (replacement of bone marrow by cancer,

suppression by chemotherapy drugs,

renal failure), and

abnormal hemoglobin (sickle cell anemia).

What does a high level of hemoglobin?

Higher than normal hemoglobin levels seen in people at high altitudes and in people smoking. Dehydration produces a falsely high hemoglobin whichdisappears when proper fluid balance restoration.

Some other infrequent causes are:

advanced lung disease (eg, emphysema),

certain crops,

a disorder of the bone marrow known as polycythemia rubra vera, and

abuse of the drug erythropoietin (Epogen) by athletes for blood doping purposes.

What is sickle cell disease?

Sickle cell disease is a genetic condition that the quality of hemoglobin isdefective. This condition can cause abnormal hemoglobin which in turn can resultin abnormally shaped (sickled) red blood cells. These abnormal red blood cellscan not easily by a small blood vessels, and so were the organs of adequateoxygen deprived.

Sickle cells have a shorter life span than normal red blood cells (10-20 dayscompared to 120 days). This rapid rotation can result in insufficient time for the red blood cells to replace and can lead to anemia.

In order for a person who has sickle cell anemia a defective human hemoglobingenes from each parent inherited. If only one gene from one parent inherited, then the conditions are much lighter and it is referred to as sickle cell trait.

What is thalassemia?

Thalassemia refers to a group of inherited with quantitative hemoglobin deficit. Thebody's failure to globulin molecules, leading to compensatory mechanism for otherless compatible globulin molecules to make. The severity of these conditionsdepends on the type of defective globulin chain and the seriousness of theproduction. Mild disease may be just as mild anemia, and severe deficiency maynot be compatible with life.

ARRHYTHMIA

2012-03-22T03:44:00.000-07:00

Introduction to Arrhythmia

An irregular heartbeat is an arrhythmia (also called dysrhythmia). Heart rates can also be irregular. A normal heart beats 50 to 100 beats per minute. Arrhythmias and abnormal heart rates do not necessarily occur together. Arrhythmias may occur with a normal heart beat, or a slow heart rates (called bradyarrhythmias - less than 50 beats per minute). Arrhythmias can also occur with rapid heart rates (called tachyarrhythmias - faster than 100 beats per minute). In the United States, more than 850 000 people hospitalized for an arrhythmia each year.

What an arrhythmia caused?

Arrhythmias may be caused by several factors, including:

Coronary artery disease.
Electrolyte imbalance in your blood (such as sodium and potassium).
Changes in heart muscle.
Injury from a heart attack.
Healing process after heart surgery.
Irregular heart rhythms can also occur in "normal healthy" heart.

What are the types of arrhythmias?

The types of arrhythmias include:

Premature atrial contraction. It is early extra beats that arise in the atria (upper chambers of the heart). They are harmless and require no treatment.
Premature ventricular contraction (PVC). It is among the most arrhythmias and occur in people with and without heart disease. This is the skipped heartbeat we all occasionally experience. In some people it may be related to stress, too much caffeine or nicotine or too much exercise. But sometimes PVC caused by heart disease or electrolyte imbalance. People who have a lot of PVC and / or symptoms associated with them must be evaluated by a heart doctor. However, in most people, PVC is usually harmless and rarely need treatment.
Atrial fibrillation. Atrial fibrillation is a common irregular heart rhythm that causes the atria, the upper chambers of the heart to abnormal contracting.
Atrial flutter. This is an arrhythmia caused by one or more rapid circuits in the atrium. Atrial flutter is usually more organized and regular than atrial fibrillation.This arrhythmia usually occurs in people with heart disease during the first week after heart surgery. It often takes atrial fibrillation.
Paroxysmal supraventricular tachycardia (PSVT). A rapid heart beat, usually with a regular rhythm originating above the ventricles. PSVT begins and ends suddenly. There are two main types: accessory path tachycardias and AV nodal tachycardia rain style (see below).
Accessory pathway tachycardia. A rapid heartbeat due to an extra lane or abnormal connection between the atria and the ventricles. The impulses travel through the extra pathways as well as by the ordinary route. This allows the impulses to the heart very quickly to travel, causing the heart beat very fast.
AV node rains vein tachycardia. A rapid heartbeat due to more than one path through the AV node. It can cause palpitations, fainting, or heart failure. In many cases, may be terminated by using a simple maneuvers, such as breathing in and carry off, and others performed by a trained medical professional. Some drugs can also stop the heart rhythm.
Ventricular tachycardia (V Tach). A rapid heart rhythm originating in the lower chambers (ventricles or) of the heart. The rapid rate prevents the heart from filling adequately with blood, so less blood through the body is able to pump. It can be a serious arrhythmia, especially in people with heart disease, and can more symptoms associated. A heart doctor should evaluate this arrhythmia.
Ventricular fibrillation. An erratic, disorganized firing of impulses from the ventricles. The ventricles quiver and are unable to contract or pump blood to the body. This is a medical emergency associated with cardiopulmonary resuscitation (CPR) and defibrillation as soon as possible treatment.
Long QT syndrome. The QT interval is the area on the electrocardiogram as the time it takes for the heart muscle to contract and then recover, or the electrical impulse to fire impulses and then recharge. When the QT interval is longer than normal, it increases the risk of "Torsade de pointes," a life-threatening form of ventricular tachycardia. Long QT syndrome is a hereditary condition that can cause sudden death in young people. It can be treated with antiarrhythmic drugs, pacemaker, electrical cardioversion, defibrillation, implanted cardiac / defibrillator or ablation therapy.
Bradyarrhythmias. It's slow heart rhythms, which may result from disease in the heart's electrical conduction. Examples include sinus node dysfunction and heart block.
Sinus node dysfunction. A slow heart rhythm due to an abnormal SA (sinus) node.Significant sinus node dysfunction that causes the symptoms are treated with a pacemaker.
Heart Block. A delay or block the electrical impulse as it travels from the sinus node to the ventricles. The level of the block or delay in the AV node or HIS-Purkinje system may occur. The heart beats irregularly and, often, more slowly. If serious heart block with a pacemaker treat.

What are the symptoms of arrhythmias?

An arrhythmia can be silent and not any symptoms. A doctor an irregularheartbeat during a physical exam track your pulse or an electrocardiogram (ECG).

When the symptoms of an arrhythmia occurs, they can include the following:

Palpitations (a feeling of skipped heart beats, fluttering or "flip-flops" or feelingthat your heart is "running away").
The pounding in your chest.
Dizziness or feeling lightheaded.
Fainting.
Shortness of breath.
Chest discomfort.
Weakness or fatigue (feeling tired).

How are arrhythmias diagnosed?

Tests used to diagnose an arrhythmia or cause to be provided include:

electrocardiogram
Holter monitor
Event monitor
stress test
Echocardiogram
cardiac catheterization
Electrophysiology study (EPS)
Head-up tilt table test

How are arrhythmias treated?

Treatment depends on the nature and severity of your arrhythmia. Some peoplewith arrhythmias require no treatment. For others, treatment may includemedication, lifestyle changes, and surgical procedures undergone.

What drugs are used to treat arrhythmias?

A variety of drugs available to treat arrhythmias. It includes:

Antiarrhythmic drugs. These drugs control heart rate and include beta-blockers.
Anticoagulant or antiplatelet therapy. These drugs reduce the risk of blood clotsand stroke. These include warfarin (a "blood thinner") or aspirin. Another bloodthinner called Pradaxa (dabigatran) was approved in 2010 to prevent stroke in people with an atrial fibrillation.
Because everyone is different, it tastes of various doses of medication and the one that works best for you to find.

Lifestyle changes can help arrhythmias?

If you see your arrhythmia occurs more often with certain activities, you shouldavoid them.
If you smoke, stop.
Limit your intake of alcohol.
Limit or stop using caffeine. Some people are sensitive to caffeine and may notice more symptoms when using caffeine products (such as tea, coffee, soda,and some over-the-counter medications).
Stay away from stimulants that cough and cold medication use. Some of thesemedicines contain ingredients that are irregular heart rhythm to promote. Read the label and ask your doctor or pharmacist what medication would be best for you.

What is electrical cardioversion?

If drugs are not able to be a persistent irregular heart rhythm (eg atrial fibrillation)control, cardioversion may be required. After the administration of a short actinganesthetic, an electric shock to your chest wall that synchronizes the heart andallows the normal rhythm to restart.

What is a pacemaker?

A pacemaker is a device that sends a small electrical impulses to the heart muscle of a suitable heart rate to maintain. Pacesetters mainly to prevent the heartbeat is too slow. The pacemaker has a pulse (where the battery and a small computer) and leads (wires) that transmit impulses from the pulse sent to the heart muscle. Newer pacemakers have many sophisticated features designed to help you manage the arrhythmias and optimize heart rate-related function as much as possible.

What is an implantable cardiac defibrillator, (ICD)?

An ICD is a sophisticated device used mainly ventricular tachycardia and ventricular fibrillation, two life-threatening heart rhythm treatment. The ICD constantly monitors the heart rhythm. When they discovered a very fast, abnormal heart rhythm, it delivers energy to the heart muscle to cause the heart back into a normal rhythm. There are several ways the ICD can be used for the normal heart rhythm restored. They include:

Anti-tachycardia pacing (ATP). When the heart beats too fast, a series of small electrical impulses to the heart muscle is a normal heart rate and rhythm recovery.
Cardioversion. A low-energy shock can be saved at the same time as the heart is better than the normal heart rhythm restored.
Defibrillation. When the dangerous heart beat rapidly or irregularly, a higher energy shock delivered to the heart muscle to a normal rhythm restored.
Anti-bradycardia pacing. Many ICDS provides backup pacing heart rhythm to maintain than it is too slow.

What Is Catheter Ablation?

During an ablation, a high-frequency electrical energy delivered through a catheter to a small area of tissue inside the heart causing the abnormal heart rhythm. This energy "connect" the path of the abnormal rhythm. Ablation is used most PSVTs, atrial flutter, atrial fibrillation, and some atrial and ventricular tachycardias treated.Ablation can be combined with other procedures to achieve optimal treatment.

What is heart surgery?

Heart surgery may be necessary to heart disease which can cause arrhythmiacorrected. The maze procedure is a type of surgery used for atrial fibrillationremedy. During this process, a series (or "maze") from incisions in the left atriaand the electrical impulses to defined paths to a minimum. Some people mayrequire a pacemaker after the procedure.

AMNIOCENTESIS

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What is amniocentesis?

Amniocentesis is a procedure whereby a sample of the fluid removed from the amniotic sac for analysis. The amniotic sac in the uterine cavity. The amniotic sac is the fluid structure inside the pregnant uterus within which the child lives. Fetal cells, proteins, and fetal urine freely move within the pocket.

During amniocentesis, fluid is removed by placing a long needle through the abdominal wall into the amniotic sac. Sometimes the woman's skin is injected first with a local anesthetic, but it is usually not necessary. The amniocentesis needle is usually guided into the bag with the help of ultrasound imaging either before or during the procedure performed. Once the needle in the bottle is a spray used to the bright orange-stained amniotic fluid, resembling urine extract. The volume of fluid withdrawn depends on the age of the fetus and the reason for the test.

The fluid can be sent for evaluation of fetal lung maturity, genetic evaluation, evidence of spina bifida (a birth defect in spinal cord development) or other neural tube defects, the presence of infection, or chromosomal analysis. Chromosomes are structures of all the genetic information in our cells. The amniotic fluid contains many free-floating fetal cells that can be used in a laboratory grown. When these cells multiply and reach a certain number, they withdrew and chromosomes analyzed. It takes about two weeks chromosome analysis carried out. The liquid contains proteins, minerals and other substances that can be tested, and these studies 1 to 7 days to act. Data obtained from amniotic fluid can help women to make informed decisions about their pregnancies and babies.

For most patients, amniocentesis is a relatively quick and easy process. Some women experience some uterine cramping or a feeling of faintness.

Who is a candidate for amniocentesis?

Women over the age of 35 have a greater chance of carrying a baby with chromosomal abnormalities. Thus, the current recommendation that women age 35 years or older at the time of delivery considering an amniocentesis for fetal chromosome test. Chromosomal abnormalities in the fetus can lead to mental retardation or other birth defects as seen with Down's syndrome. The possibility of a baby with a chromosomal defect increases with the age of the mother.

At age 35 the odds are about 1 in 178.

At age 40, the rate increased to 1 in 63.

At age 48, the ratio is 1 in 8.

For women younger than 35, the risk of complications as a result of an amniocentesis outweigh the possibility that the baby has a chromosomal abnormality (see below, "Is Amniocentesis Safe").

After 35, the chance of carrying a baby with a chromosomal abnormality is more common than the experience of the complications associated with this process.
If a family history of chromosomal problems or history of previous births that a chromosomal problem is found, amniocentesis may be recommended. However, the exact benefits of amniocentesis in this situation is uncertain. Many chromosomal abnormalities can not again in subsequent pregnancies, and genetic counseling can help a woman decide if amniocentesis would be of value in such situations.

What does amniocentesis show?

Amniocentesis is very accurate in the detection of chromosomal abnormalities and sex of the fetus. Sometimes the fetal cells harvested amniocentesis does not grow in culture and no chromosome data obtained. In addition, the doctor is sometimes unable to withdraw fluid from the uterus during amniocentesis due to a variety of technical reasons. In both cases, the process is repeated.

Amniocentesis test for lung maturity may help the physician make decisions regarding the timing of delivery for women in preterm labor, or people with diabetes or other medical conditions requiring delivery. Lung maturity test is not perfect. In exceptional cases, a baby born with apparently mature lungs, but still experienced breathing problems.

AFP (alpha feto. Protein) blood test is available and can be used to screen for neural tube defects like spina bifida and Down's syndrome. An elevated blood level of AFP may indicate the possibility that the fetus has a defect in the brain and spinal cord development. A low level of AFP may indicate the potential for Down's syndrome. When abnormal levels of AFP are found, further evaluation with ultrasound and amniocentesis done to check for birth defects and chromosomal abnormalities.

Amniocentesis can also help to determine whether specific genetic problems in the fetus. Testing for Tay-Sachs disease cystic fibrosis, sickle cell anemia and other hereditary diseases can be performed on samples of amniotic fluid. The control of the cells for a specific gene can now be done on the fetal cell cultures. It is also possible to look for a specific protein in the amniotic fluid may indicate a genetic defect. Testing for genetic (inherited) disease is not often performed, but it is available.

Another common reason for performing amniocentesis to determine if the fetal lungs are mature enough so the baby can safely be delivered before the due date.If the fetal lungs are not mature, an attempt to aid premature labor with medication to stop. If the adult lung tissue, it may be safe for the premature baby to be born.This test can also help in the time of delivery when the due date is uncertain.

Sometimes a pregnant woman has a fever without an obvious site of infection. In these cases, an amniocentesis is performed to determine the cause of maternal fever is an intra-infection, when the source of infection is unclear.

The general possibility of birth defects in a pregnancy is about 3%. For defects such as cleft lip, hernia, and extra fingers or toes, there are no prenatal tests and amniocentesis will not benefit. Ultrasound is the only useful test in detecting these defects in the fetus.

When should amniocentesis be done?

For genetic testing, chromosome analysis and evaluation of an abnormal AFP test, amniocentesis is usually between the 15th and 20th weeks of pregnancy.There is a higher rate of miscarriage associated with amniocentesis earlier than the 15th week running. There is no restriction on how late in pregnancy, amniocentesis can be performed.

If amniocentesis is performed for fetal lung maturity to determine, it is often done anywhere between the 32nd and 36th week of pregnancy. In women with diabetes, lung maturity test can be done as late as the 39th week, because poorly controlled diabetes can delay fetal lung maturity.

Amniocentesis is safe?

Overall, amniocentesis is a safe procedure with a risk of fetal loss at generally less than 1%. According to the American College of Obstetricians and Gynecologists Practice Bulletin, there is a procedural fetal loss rate ranging from 1/300 to 1/500 procedures.

Since there is the slight possibility of pregnancy loss from the procedure, amniocentesis should be performed only when clearly indicated and its benefits are determined for any associated risks outweigh. Many parents ask for the procedure to "assure" them that everything is perfect. It should be emphasized that an amniocentesis with normal results do not guarantee that the baby a birth or a genetic defect. Many birth defects can not be detected by amniocentesis.Besides fetal loss, other risks associated with amniocentesis bleeding, cramps and leakage of fluid from the vagina. These problems occur in about 1% of women who undergo the procedure, and generally resolve on their own. If these symptoms arise from the process, women are often advised to quit work and stay on bed rest until the symptoms cease. Subsequent activity will be prohibited by the doctor. Sometimes the fetus put the needle in the test, but it is usually harmless.

Amniocentesis is a relatively safe and painless procedure that can provide useful information. The procedure can be offered to selected women after reviewing the risks and benefits involved.

The amniocentesis At a Glance

Amniocentesis can be performed for chromosome analysis or the detection ofgenetic disorders and conditions in the fetus.

Pregnant women over the age of 35 are candidates for amniocentesischromosomal abnormalities to detect the fetus.

Amniocentesis can also be used to mature the lungs of the fetus or the cause of an unknown fever in the mother to determine.

For genetic testing, chromosome analysis, and evaluation of an abnormal alphafeto protein test, amniocentesis is usually between the 15th and 20th weeks ofpregnancy.

The risk of fetal loss of the amniocentesis procedure is less than 1%

Proposed: Amniocentesis Main section

During an amniocentesis, a sample of amniotic fluid is taken to screen for certainbirth defects (Down's syndrome, neural tube defects, spina bifida, cystic fibrosis),lung maturity of the fetus, infection, or chromosomal analysis. Amniocentesis is recommended for women who give birth after the age of 35

COOLEY'S ANEMIA

2012-03-21T10:15:00.002-07:00

What is Cooley's anemia?

Cooley's anemia, also known as beta thalassemia major, is a rare condition that requires regular blood transfusions and extensive medical care. The condition mainly affects people of Mediterranean countries and Asia. However, in 1993, a survey showed that 518 patients in the United States with Cooley's anemia. Most of these patients had the severe form of the disease.

What causes it?

Cooley's anemia occurs when there are variant or missing genes that affect how the body makes hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen to other parts of the body. People with Cooley's anemia make less hemoglobin and fewer circulating red blood cells than normal, leading to a moderate or severe anemia. The condition is always inherited (passed from parents to children), which means that people with Cooley's anemia variant genes from both parents received.

Understand Hemoglobin

Hemoglobin is made of two kinds of protein chains named alpha-globin chains and beta-globin chains. Alpha thalassemia occurs when there is a problem in the alpha-globin chain. Beta thalassemia occurs when there is a problem in the beta globin chain.

There is a moderate and severe forms of alpha thalassemia and beta thalassemia. Severe beta thalassemia is often called Cooley's anemia.

Two genes involved in making the beta globin part of hemoglobin, one from each parent. Beta thalassemia occurs when one or both of the two gene variant. For example:

If one does not affected, a person as a carrier and a mild anemia. This condition is called beta thalassemia trait or beta thalassemia minor.
If both genes are affected, a person with moderate anemia (beta thalassemia intermedia or mild Cooley's anemia) or severe anemia (beta thalassemia major or Cooley's anemia).

General symptoms of Cooley's anemia

Severe symptoms of Cooley's anemia typically appears during the first two years of life. Symptoms include:

Fatigue and weakness
Pale skin or jaundice (yellowing of the skin)
Protruding abdomen with an enlarged spleen and liver
Dark urine
The abnormal facial bones and poor growth
A poor appetite.

Adolescents with Cooley's anemia may experience delayed puberty. It is important to treatment for Cooley's anemia to receive for heart failure and infection are the leading causes of deaths among untreated children with Cooley's anemia.

A diagnosis

Cooley's anemia is diagnosed by blood tests including a complete blood count (CBC) and special hemoglobin studies.

A CBC provides information about the amount of hemoglobin in the blood and the different types of blood cells present. People with Cooley's anemia less hemoglobin than normal and fewer red blood cells than normal in their blood.

Hemoglobin studies measure the types of hemoglobin in a blood sample.

(Click thalassemia diagnosis for more information about how the condition is diagnosed.)

Current treatment of Cooley's anemia

The outlook for children with Cooley's anemia due to blood transfusions and antibiotics improved. Frequent transfusions keep hemoglobin levels near normal and prevent many of the complications of Cooley's anemia. But repeated blood transfusions lead to iron overload - a build up of iron in the body - the heart, liver and other organs in the body can be damaged. Drugs known as iron chelators to help rid the body of excess iron, preventing or delaying problems associated with iron overload.

Thalassemia research new treatment for Cooley's anemia, including ways to cure the disease by stem cell gene therapy and study.

Soft Versus serious forms of Cooley's anemia

People with thalassemia intermedia, also known as Cooley's anemia lights may need blood transfusions Social when they experience stress due to an infection.Thalassemia intermedia thalassemia major is when the disease worsens and the patient need blood transfusions regularly.

What is the prognosis?

For a person living with Cooley's anemia will depend on forecasts:

How bad the situation is
How soon treatment begins
How successful the treatment.

People with Cooley's anemia, which is capable of therapy to continue to live successfully in their 30s or 40s.

Is there a cure for Cooley's anemia?

Cooley's anemia can be cured by bone marrow transplantation. This treatment is only possible for a small minority of patients a suitable donor. The transplant is still risky and can cause death.

Cooley's anemia and gene therapy

Thalassemia researchers are developing a gene therapy may develop a cure for Cooley's anemia presented. They are currently looking for two gene therapy treatments, which include:

Beta-globin genes and stem cells
Drugs and fetal hemoglobin.

Beta-globin Gene and stem cells

This treatment option, once fully developed, would involve inserting a normal beta-globin genes (genes that are abnormal in this disease) in the patient's stem cells, the immature bone marrow cells, the progenitors of all other cells in the blood.

Drugs and fetal hemoglobin

Scientists are also developing a treatment that uses drugs or other methods to the patient's genes that produce fetal hemoglobin, which is the form of hemoglobin in fetuses and newborns to activate.

Scientists hope that the production of fetal hemoglobin increase will compensate for the patient's deficiency of adult hemoglobin.

Arteriosclerosis

2012-03-21T09:59:00.000-07:00

What is Arteriosclerosis?

Arteriosclerosis is a generic term for the thickening and hardening of the arteries.Arteries are blood vessels that carry oxygenated blood from the heart to other parts of the body. Arteriosclerosis is responsible for the majority of deaths in the United States and other Western countries.

Types of arteriosclerosis

There are several forms of arteriosclerosis. By far the most common is atherosclerosis. Other forms of arteriosclerosis include focus. Lime arteriosclerosis (Mönckeberg's sclerosis) and arteriolosclerosis ..

Atherosclerosis

Atherosclerosis is a hardening and narrowing of blood vessels increased as the aorta, and those in the heart (coronary arteries), brain and bones. Atherosclerosis is caused by the slow build up of plaque on the inside walls of the arteries. Plaque is fat, cholesterol, calcium and other substances in your blood. As it grows, the build up of plaque narrows the inside of the artery and in time, may restrict blood flow.

Focal Calcific Arteriosclerosis

Focal lime arteriosclerosis is a condition in which calcium build up in the middle of the arteries. It is common in the veins of the upper and lower limbs, as well as the genitals of both men and women. Due to the structure of calcium in the arteries of people with this type of arteriosclerosis extremely tight. However, in contrast to atherosclerosis, the inside of blood vessels not now. Therefore, the decreased blood flow and symptoms usually occur. Indeed, for most people, this type of arteriosclerosis has no impact. Focal lime arteriosclerosis can cause problems when it comes along with it the atherosclerosis or when the calcium gets deposited on the aortic valve in the heart.
Arteriolosclerosis
This type of arteriosclerosis affects the inside and the middle layer of the arteries and smaller arteries called arterioles. The blood vessels most affected are those in which:

Dumps
Adrenal Glands
Kidneys
Pancreas.

When arteriolosclerosis occurs in the kidneys, high blood pressure (aka hypertension) can occur.

What is Arteriosclerosis Obliterans?

Obliterans arteriosclerosis is the leading cause of narrowing or blockage of arteries in the arms, legs and pelvis. Obliterans arteriosclerosis caused by atherosclerosis, so it is more commonly known as atherosclerosis of the extremities or peripheral arterial disease (PAD).

Obliterans arteriosclerosis is the most common type of peripheral vascular disease, which is a group of conditions that affect the arteries and veins in the limbs (arms, legs and pelvis).

If these areas are affected by arteriosclerosis Obliterans, he or she may experience symptoms that include:

Claudication (pain, pain, or cramping in the muscles that occurs during exercise, but improves with rest)

Cold or numbness in the feet and toes, especially at night.

Thalassemia and Pregnancy

2012-03-21T09:48:00.000-07:00

Is there a link between thalassemia and pregnancy?

Thalassemia is a type of inherited blood disease that can cause anemia. It affects a person's ability to produce hemoglobin, which is the protein in red blood cells that carries oxygen to all parts of the body provides.

Approximately 100,000 babies worldwide are born with severe forms of thalassemia each year. However, the condition occurs more often in people of Italian, Greek, Middle Eastern, South Asian, and African descent.

The Gene thalassemia and pregnancy

Parents who mutated thalassemia genes can pass the gene to their children. A child who has one mutated gene site, is considered a carrier, also known as thalassemia trait. Most people who have thalassemia trait lead completely normal, healthy lives.

Thalassemia and pregnancy: What are the risks?

If two people with beta thalassemia trait (carriers), a baby can be one of three things happens:

The baby could receive two normal genes (one from each parent) and normal blood (1 in 4 chance)
The baby may have a normal gene from one parent and not a variant of the other parent, and thalassemia trait (2 4 chance)
The baby could receive two thalassemia genes (one from each parent) and a moderate to severe forms of the disease (1 in 4 chance).
Thalassemia and pregnancy: Genetic testing
If a woman or her husband have a family history of thalassemia, they want to consider genetic testing before becoming pregnant. Blood tests and family genetic studies can show whether an individual has thalassemia or is a carrier of thalassemia trait. If both parents are carriers, they can a genetic counselor for help in deciding whether to conceive or a fetus that tested positive for thalassemia to consult.

Thalassemia and pregnancy: Prenatal testing

Prenatal testing for thalassemia can be done when a woman is 11 weeks pregnent by chorionic villi sampling (CVS). CVS involves removing a small piece of the placenta, which will then be tested. Prenatal testing can also be an amniocentesis done when a woman is 16 weeks pregnant. In this procedure, a needle used to take an example of the fluid around the baby, who will then be tested.

Thalassemia and pregnancy, assisted reproductive therapy

Assisted reproductive therapy is an option for those carriers who do not want to risk giving birth to a child with thalassemia.

A new technique, pre-implantation genetic diagnosis (PGD), used in conjunction with in vitro fertilization, parents who have thalassemia trait or the bear to give birth to healthy babies. Embryos created in vitro for thalassemia not tested before being implanted in the mother, who only healthy embryos are selected.

What Genes Are Related to Alpha Thalassemia

2012-03-21T04:56:00.001-07:00

What Genes Are Related to Alpha Thalassemia

Alpha thalassemia typically results from deletions involving the HBA1 and HBA2 genes. Both of these genes provide instructions for making a protein called alpha-globin, which is a component (subunit) of hemoglobin.

People have two copies of the HBA1 gene and two copies of the HBA2 gene in each cell. Each copy is called an allele. For each gene, one allele is inherited from a person's father, and the other is inherited from a person's mother. As a result, there are four alleles that produce alpha-globin. The different types of alpha thalassemia result from the loss of some or all of these alleles.

Hb Bart syndrome, the most severe form of alpha thalassemia, results from the loss of all four alpha-globin alleles. HbH disease is caused by a loss of three of the four alpha-globin alleles. In these two conditions, a shortage of alpha-globin prevents cells from making normal hemoglobin. Instead, cells produce abnormal forms of hemoglobin called hemoglobin Bart (Hb Bart) or hemoglobin H (HbH). These abnormal hemoglobin molecules cannot effectively carry oxygen to the body's tissues. The substitution of Hb Bart or HbH for normal hemoglobin causes anemia and the other serious health problems associated with alpha thalassemia.

Two additional variants of alpha thalassemia are related to a reduced amount of alpha-globin. Because cells still produce some normal hemoglobin, these variants tend to cause few or no health problems. A loss of two of the four alpha-globin alleles results in alpha thalassemia trait. People with alpha thalassemia trait may have unusually small, pale red blood cells and mild anemia. A loss of one alpha-globin allele is found in alpha thalassemia silent carriers. These individuals typically have no thalassemia-related signs or symptoms.

How Do People Inherit Alpha Thalassemia?

The inheritance of alpha thalassemia is complex. Each person inherits two alpha-globin alleles from each parent. If both parents are missing at least one alpha-globin allele, their children are at risk of having Hb Bart syndrome, HbH disease, or alpha thalassemia trait. The precise risk depends on how many alleles are missing and which combination of the HBA1 and HBA2 genes is affected.

What are the types of alpha thalassemia?

2012-03-21T04:36:00.001-07:00

What are the types of alpha thalassemia?

Two types of alpha thalassemia can cause health problems. The more serious type called hemoglobin Bart hydrops fetalis syndrome or Hb Bart syndrome. The lighter form called HCB disease.

HB Bart syndrome is characterized by hydrops fetalis, a condition in which excessfluid accumulation in the body before birth. Additional signs and symptoms may include severe anemia, an enlarged liver and spleen (hepatosplenomegaly), heart defects and abnormalities of the urinary system or genitals. As a result of theseserious health problems, most babies with this condition are stillborn or die shortly after birth. Hb Bart syndrome may also lead to serious complications for women during pregnancy, including dangerously high blood pressure with swelling (preeclampsia), premature delivery,

and abnormal bleeding.

HBH disease causes mild to moderate anemia, hepatosplenomegaly, and yellowing of the eyes and skin (jaundice). Some affected individuals also have been changes such as overgrowth of the upper jaw and an unusually prominentforehead. The characteristics of BH disease usually appears in early childhood,and affected individuals usually live into adulthood.

How common is Alpha thalassemia?

Alpha-thalassemia is a fairly common blood disorder worldwide. Thousands of babies with Hb Bart syndrome and HBH disease are born each year, especiallyin Southeast Asia. Alpha thalassemia occurs often in people of Mediterranean countries, North Africa, Middle East, India and Central Asia.

What is alpha thalassemia?

2012-03-21T03:59:00.000-07:00

What is alpha thalassemia?

Alpha-thalassemia, a blood disease that reduced production of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen to cells throughout the body.

What are the symptoms of alpha thalassemia?

In people with the characteristics of alpha thalassemia, a reduction in the amount of hemoglobin prevents enough oxygen from reaching the body's tissues. Affected individuals have a deficiency of red blood cells (anemia), which pale skin, weakness, fatigue, and more serious complications may result.

Is there a test for Thalassemia

2012-03-21T03:42:00.001-07:00

Blood tests and family genetic studies can show whether an individualthalassemia or a carrier. If both parents are carriers, they can a genetic counselorfor help in deciding whether to conceive or a fetus tested for thalassemia toconsult.

Prenatal testing can be done around the 11th week of pregnancy by chorionic villisampling (CVS). It involves removing a small piece of the placenta. Or, the fetus isthe amniocentesis test to the 16th week of pregnancy. In this procedure, a needleused for a sample of the fluid around the baby for the test to take.

Assisted reproductive therapy is also an option for carriers who do not want torisk giving birth to a child with thalassemia. A new technique, pre-implantationgenetic diagnosis (PGD), used in conjunction with in vitro fertilization, parents whocarry the thalassemia trait, or to give birth to healthy babies allow. Embryoscreated in vitro for thalassemia not tested before being implanted in the mother,who only healthy embryos are selected.

What we know about heredity and thalassemia?

2012-03-21T03:36:00.001-07:00

-Thalassémie is actually a group of hereditary diseases of the blood that a person's ability to produce hemoglobin, which anemia affects. Hemoglobin is a protein in red blood cells that carries oxygen and nutrients to the cells in the body.About 100,000 babies worldwide are born with severe forms of thalassemia each year. Thalassemia, most people of Italian, Greek, Middle Eastern, South Asian and African origin.
The two main types of thalassemia are called "Alpha" and "beta" depending on which part of an oxygen-carrying protein in red blood cells lack. Both types of thalassemia are inherited in the same way. The disease is transmitted to children by parents that the mutated thalassemia genes. A child who has one mutated gene site is a carrier, sometimes called "thalassemia trait." Most carriers lead completely normal, healthy lives.
A child two thalassemia trait genes are inherited - one from each parent will have the disease. A child of two carriers has a 25 percent chance of the two trait genes and developing the disease, and a 50 percent chance of a thalassemia trait carrier.
Most individuals with alpha thalassemia lighter forms of the disease, with varying degrees of anemia. The most severe form of alpha thalassemia, which mainly individuals of Southeast Asia, Chinese and Filipino ancestry, results in fetal or newborn death touch.
A child with two copies of the mutated gene for beta thalassemia beta thalassemia will stand disease. The child can be a mild form of the disease, known as thalassemia intermedia, which causes anemia lighter seldom require transfusions.

Thalassemia Major: A Serious Disorder
The more severe form of the disease thalassemia major, also Cooley's anemia called. This is a serious disease that requires regular blood transfusions and extensive medical care.
Those with thalassemia major usually show symptoms within the first two years of life. They are pale and listless and had a poor appetite. They grow slowly and often develop jaundice. Without treatment, the spleen, liver and heart significantly increased soon. In thin and crisp. Heart failure and infection are the leading causes of death among children with untreated thalassemia major.
The use of frequent blood transfusions and antibiotics has improved the outlook for children with thalassemia major. Frequent transfusions keep their hemoglobin levels near normal and many of the complications of the disease occur. But repeated blood transfusions lead to iron overload - a build up of iron in the body - the heart, liver and other organ damage. Drugs known as "iron chelators" can help rid the body of excess iron, preventing or delaying problems associated with iron overload.
Thalassemia cured by using bone marrow transplants. This treatment is only possible for a small minority of patients a suitable donor. The transplant is still risky and can cause death.

Gene therapy offers hope for a cure
Scientists are developing a gene therapy may develop a cure for thalassemia offer. Such a treatment may involve inserting a normal beta globin genes (genes that are abnormal in this disease) in the patient's stem cells, the immature bone marrow cells that are the precursors of all other cells in the blood.
Another form of gene therapy involves the use of drugs or other methods to the patient's genes that produce fetal hemoglobin to activate - the form of hemoglobin in fetuses and newborns. Scientists hope that the production of fetal hemoglobin increase will compensate for the patient's deficiency of adult hemoglobin.

Drugs And Supplements

2012-03-21T03:24:00.000-07:00

Herbs, supplements and vitamins

Aloe
Arginine
Beta-carotene
Black cohosh
Chocolate
Chondroitin sulfate
Coca
Coenzyme Q10
Cranberry
Creatine
DHEA
Dong quai
Echinacea
Ephedra
Evening primrose oil
Flaxseed and flaxseed oil
Folate
Ginkgo
Glucosamine
Honey
Lactobacillus acidophilus

Lycopene
Marijuana
Melatonin
Milk thistle
Niacin
Omega-3 fatty acids, fish oil, alpha-linolenic acid
Red yeast rice
SAMe
Saw palmetto
Soy
St. John's wort
Tea tree oil
Thiamin
Vitamin A
Vitamin B12
Vitamin B6
Vitamin C
Vitamin D
Vitamin E
Whey protein
Zinc

Thalassemia

2012-03-21T00:39:00.002-07:00

Thalassemia

Mediterranean anemia, Cooley's anemia, beta thalassemia, Alpha thalassemia
.

Thalassemia, a blood disease transmitted through families (inherited) in the bodymakes an abnormal form of hemoglobin, the protein in red blood cells that carries oxygen. The disease results in an excessive destruction of red blood cells, whichleads to anemia.

Causes, incidence and risk factors

Hemoglobin is made of two proteins: Alpha globin and beta globin. Thalassemia occurs when there is a defect in a gene that helps control production of these proteins.There are two main types of thalassemia:Alpha thalassemia occurs when a gene or genes associated with the alpha globin protein are missing or changed (mutated).Beta thalassemia is when similar gene defects affect production of the beta globin protein.The Alpha thalassemias are most common in persons from Southeast Asia, Middle East, China, and in those of African descent.Beta thalassemias occur in people of Mediterranean origin, and to a lesser extent, Chinese and other Asians, and African Americans.There are many forms of thalassemia. Each type has many different subtypes.Both alpha and beta thalassemia include the following two forms:Thalassemia majorThalassemia minorYou have the defective gene from both parents stand thalassemia major development.Thalassemia minor as you get the defective gene from only one parent. People with this form of the disease are carriers of the disease and usually have no symptoms.Beta thalassemia major is also called Cooley's anemia.Risk factors for thalassemia include:Asian, Chinese, Mediterranean, or African American ethnicityFamily history of disease.

Symptoms

The most severe form of alpha thalassemia major causes stillbirth (death of the unborn baby during birth or the last stages of pregnancy).Children born with thalessemia major (Cooley's anemia) are normal at birth but develop severe anemia during the first year of life.Other symptoms may include:Bone deformities in the faceFatigueGrowth failureShortness of breathYellow skin (jaundice)Persons with a small form of alpha and beta thalassemia have small red blood cells (identified by looking at their red blood cells under a microscope), but no symptoms

Signs and tests

A physical examination may reveal a swollen (enlarged) spleen.A blood sample is taken and sent to a laboratory for examination.Red Blood Cells small and abnormally shaped will appear when looked at under a microscope.A complete blood count (CBC) shows anemia.A test called hemoglobin electrophoresis shows the presence of an abnormal form of hemoglobin.A mutation analysis test can help to detect alpha thalassemia that is not with hemoglobin electrophoresis seen.

Treatment

Treatment for thalassemia major often involves regular blood transfusions and folate supplements.If you received blood transfusions, you should not take iron supplements. Doing so can cause a high amount of iron in the body to build, which could be harmful.People that significant numbers of blood transfusions received a treatment called chelation therapy, excess iron from the body removed.Bone marrow transplant may help treat the disease in some patients, especially children.

Expectations (Prognosis)

Severe thalassemia early death from heart failure caused, usually between the ages of 20 and 30. Frequent blood transfusions with therapy to remove iron from the body helps to improve the outcome.Less severe forms of thalassemia usually do not have a shorter lifespan.Genetic counseling and prenatal screening available to those with a family history of this state who plan to have children

Complications

Untreated, thalassemia major leads to heart failure and liver problems, and make aperson more likely to develop infections.

Blood transfusions can help a couple to control symptoms but can lead to too muchiron as the heart, liver, and endocrine system damage.