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The thalassemias are, together with a related condition, sickle cell anemia, the world's most common single gene disorders. The thalassemias are inherited disorders of hemoglobin, the protein in the red blood cell which carries oxygen to body tissues. Lacking adequate amounts of hemoglobin, children with thalassemia usually require monthly blood transfusions to survive.

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Alpha-thalassemia and beta-thalassemia describe which chain of hemoglobin, the alpha or the beta subunit, is affected. Although alpha-thalassemia and beta-thalassemia share similar characteristics, both are distinctive in their management. While alpha thalassemia may be associated with minor problems, it is the beta thalassemias which are the more clinically significant.

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Thalassemia is an autosomal recessively inherited disorder. The major form of the disease can be inherited only if each of a child's parents have thalassemia minor (the carrier state for thalassemia, which rarely is associated with symptoms and does not interfere with life or survival). In a situation in which both parents are carriers or have thalassemia minor, there is (in each pregnancy) a 25% or 1 in 4 chance that a baby will be born with thalassemia major. In the case of pregnancy in which only one parent is a carrier or has thalassemia minor, there is a 0% chance that a baby will be born with thalassemia major. A baby must inherit two genes, one from the mother and one from the father, to have a major form of thalassemia.

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The thalassemias are endemic in the areas of the world -- including Asia, Southeast Asia, China, the Middle East and the Mediterranean -- in which malaria was once, or remains, a common threat to life. While generally not recognized as such, in fact the thalassemias are -- together with a related condition, sickle cell anemia -- the world's most common single gene disorders. Given that the thalassemias are so common, their disease burden is huge. Worldwide, hundreds of thousands of children are affected. However, until recently, thalassemia was rarely included in the health priorities of governments, or of international health agencies. It was only in 2006 that the World Health Organization recognized that the thalassemias (and sickle cell anemia) are major global health problems deserving urgent attention.

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Inheritance of beta thalassemia major leads to ineffective red cell production and severe anemia. As a result of the severe anemia caused by thalassemia (usually in the first year of life), most children can experience severe symptoms of anemia: fatigue, poor appetite, irritability, and failure to grow properly.

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Sadly, yes. A child with beta thalassemia in Asia usually does not survive to adulthood, or indeed to his or her tenth birthday. The treatment of beta thalassemia, including the blood transfusions and medicine necessary to prevent complications, is costly. Although out of the financial reach of most families, treatment is not provided by most Asian governments. Therefore, affected children, particularly poorer children, are usually left without proper medical care. As a result, these children suffer painful and avoidable complications including heart disease and liver failure, and die prematurely often before reaching the teenage years.

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For a very small minority of thalassemia patients (about one in four patients) a cure through the use of bone marrow transplantation (BMT) is possible. BMT is only possible when a fully matched bone marrow donor, usually a sibling, is available. BMT is also an expensive procedure that is not generally available in emerging countries.

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Yes, it is. In North America and Europe, patients affected with thalassemia (who are, usually, children of immigrants from the above areas of the world) receive effective, life-long treatment. Most survive to adulthood, and forge productive lives. Through regular blood transfusions -approximately every month- a patient's hemoglobin can be supported. The consequence of these life-saving transfusions is iron accumulation in a patient's organs. Thus, drugs called iron chelators are required to prevent and reduce iron accumulation in tissues.

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