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Alpha and Beta Thalassemia
Monday, 18 August 2003
Sunday, 21 November 2004


The Thalassemias are a hereditary form of hemolytic anemias characterized by a defect in the body's production of hemoglobin protein. Hemoglobin (Hb) is the oxygen-carrying component of red blood cells (RBC). Thus, with defective hemoglobin, RBC production is also impaired and the RBC's are unable to carry the necessary amount of oxygen. Hemoglobin is made of two different proteins, an alpha chain and a beta chain. Beta Thalassemia is more common and results when there is a defect in production of the beta chain, whereas Alpha Thalassemia is a defect in the alpha chain production. The severity of thalassemia depends on the number of chains that are defective.


Thalassemia can affect anyone but is more common in certain regions of the world. Beta Thalassemia is more common in Italians, Greeks, and Southeast Asians (Vietnamese, Laotian). Alpha Thalassemia is more common in people who live in Africa, the Middle East, India, Southeast Asia, southern China, and occasionally the Mediterranean region.

Signs and Symptoms

Children with thalassemia may have some or all of the following signs and symptoms:

Beta Thalassemia

Thalassemia minor (trait) - usually asymptomatic, mild anemia

Thalassemia major (Cooley's anemia) - severe anemia with loss of energy and activity beginning at 6 months, failure to thrive, pale color, enlarged liver and spleen, easy bruising and bleeding, loss of appetite, and poor growth.

Alpha Thalassemia

There are four genes that code for the production of alpha chains in hemoglobin. This means that there are multiple different forms of alpha Thalassemia depending on the number of genes that are defective.

1. One gene deleted (silent carrier)- typical patients show no symptoms. 

2. Two genes deleted (minor)- very mild anemia and a blood smear shows mild changes in RBCs.

3. Three genes deleted (Hemoglobin H disease)-  severe fatigue, pallor, anorexia, poor growth.

4. All 4 genes deleted (Bart's disease)- severe anemia, heart failure, enlarged spleen, generalized fluid swelling, and stillborn birth.

Possible Causes

Alpha Thalassemia results from deletion of one or more of the four alpha genes normally present. Beta Thalassemia is usually caused by errors in protein production. In either disease, the problematic genes are passed from generation to generation. This is why there is usually a family history of anemia in children who have thalassemia.


In all cases it is first prudent to rule out other types of anemia such as those that result from a deficiency of iron or lead poisoning. Once other causes have been ruled out, special blood tests and x-rays can confirm the diagnosis of thalassemia.

A complete blood count will confirm anemia while a hemoglobin electrophoresis will identify defects in alpha and beta hemoglobin chains. A blood smear evaluated by a pediatric hematologist may show abnormally shaped red blood cells. X-rays of the skull and long bones show widening of the bone marrow space.


The treatment for the severe forms of thalassemia (Beta-thalassemia major and Hemoglobin H disease) is supportive with blood transfusions usually every 4-6 weeks. Transfusions are routinely administered to maintain hemoglobin levels between 8-10 gm/dL to avoid symptoms. Iron overload is a common problem with frequent transfusions and is managed with oral or IV medications that help the body excrete the excess iron. Bone marrow transplantation is the only curative therapy for both forms of thalassemia.


Most children with Beta-thalassemia minor and mild Alpha-thalassemia have a normal life span with routine medical care. Should they need a blood transfusion, it should be carefully screened to avoid any transfusion reactions. For children with Beta Thalassemia major, some will unfortunately die before the age of 30 due to the complications of the severe, chronic anemia, while others survive and struggle with impaired growth, heart complications, and chronic fatigue.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.


Cooley's anemia

This link on the Cooley's anemia site takes you to a nice write up on the medical information about both types of thalassemia, upcoming  conference, and a parent helpline. 

Harvard webpage

This link on the Harvard site takes you to the thalassemias which contains an index of topics such as overviews, management, and research which take you to further write up and links. This is an excellent website to see.  

Thalassemia Foundation of Canada

This site contains a multitude of information on conferences, activities, parent support, funding campaigns, advocacy and a link to American sites for researching thalassemia.

NIH site

Concise overview with illustrations of peripheral blood smears.

Google Search for Alpha and Beta Thalassemia

References and Sources

McCance K (2002). Pathophysiology: the biologic basis for disease in adults and children 4th Edition, Mosby publishers, p.126-7

Handbook of Pathophysiology, Springhouse Publishers, c.2001p.381-2

Marino, BS. USMLE: Blueprints in Pediatrics. c.1998, p103-105

If you would like to be connected to parents of children with this disease, please fill out this brief form.

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