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A type of Thalassemia (Hemoglobin H Disease)can cause an enlarged spleen, bone deformities, and fatigue. The lack of alpha protein causes this.

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Blood and bone marrow transplants are the only thing that can cure thalassemia. They replace blood-forming stem cells that aren’t working with healthy donor cells. But, only a small amount of people are able to find a donor, and are good fit for the procedure.

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Iron chelation therapy is used for people with regular blood transfusions to prevent iron buildup. Usually, you take a set of pills.

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During a blood transfusion, you receive healthy red blood cells with normal hemoglobin. How often you need a blood transfusion depends on the severity of your disease.

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Pete Sampras has thalassemia minor. It is a minor form of thalassemia and after blood transfusions he is fine.

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Thomas Benton Cooley, M.D. discovered Thalassemia. When he worked at the Children’s Hospital of Michigan he did a study on a form of childhood anemia. He noted similarities in bone change in 4 children of Greek and Italian heritage. In 1925, he presented his findings to the American Pediatric Society and named it erythroblastic anemia, now known as Cooley’s anemia.

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Beta Thalassemia is more popular in people of Mediterranean descent, like Italians and Greeks, and is also found in the Arabian Peninsula, Iran, Africa, Southeast Asia and southern China.

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Alpha Thalassemia is more popular in Africa, the Middle East, India, Southeast Asia, southern China, and sometimes the Mediterranean region.

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A mutation in the HBB gene causes Thalassemia. The HBB gene makes instructions for making a protein called beta-globin(a component of hemoglobin.)

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Hereditary - how the child inherits thalassemia

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Hereditary - how the child inherits thalassemia

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If a child inherits one mutated gene, they are a carrier and they have the “thalassemia trait” They usually live normal, healthy lives.

If a child inherits two mutated genes (one from each parent) them they have the disease.

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The lymphatic system (spleen) and endocrine systems can get affected because of iron overload. The large amount of destructed blood cells causes the spleen to work too hard and become enlarged.

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The cardiovascular system and endocrine systems can get affected because of iron overload. Too much iron results in damage to these systems.

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The Thalassemia mutation is found on chromosomes 11 and 16.