Thalassemia: Genetic Blood Disorder Expected To Double In Next Few Decades

Children's Hospital Oakland, a world recognized center for treatment and research of thalassemia, has formed an international network treating patients throughout the world.
Thalassemias are hereditary disorders characterized by defective production of hemoglobin. This leads to low production, and over destruction, of red blood cells.

Thalassemia is the world's most common genetic blood disorder and it is rapidly increasing. Seven percent of the world's population are carriers, and 400,000 affected babies are born each year. The World Health Organization (WHO) predicts a doubling of these statistics within the next few decades.

Once rare in California, it has become the most frequent disorder detected in the state newborn screening program of over 700,000 annual births. Thalassemia is usually fatal in infancy unless ongoing transfusions are initiated.

Children's Hospital Oakland is orchestrating an international effort to step up education, awareness, and specialized treatment for patients. One of India's top researchers is visiting the hospital to share her insight on this rapidly increasing genetic disease. In India, 100 million people are carriers of this disorder, and at least 10-thousand babies are born every year with thalassemia. There is a shortage of adequate treatment, including transfusions for many of these patients. Similar problems are being observed throughout the world, including California and the Bay Area.

Thalassemia Causes, incidence, and risk factors
Hemoglobin contains two chains, alpha and beta globin. Genetic defects can be inherited that cause imbalances in the production of either chain.

Beta thalassemias are caused by a mutation in the beta globin chain. Genes must be inherited from both parents to acquire the major form of the disease. If one gene is inherited, the person will be a carrier of the disease, but will not have symptoms. (This is the minor form.)

In the major form, children are normal at birth, but develop anemia during the first year of life. Growth failure, bone deformities, and enlarged liver and spleen are some of the problems that can occur. Blood transfusions may modify some of the disease manifestation, but iron overload from the transfusions can cause damage to the heart, liver, and endocrine systems.

The mild form of beta thalassemia produces small red blood cells, with no symptoms. Risk factors include a family history of thalassemia and an ethnic background susceptible to the disease.

Beta thalassemias occur in people of Mediterranean origin, and to a lesser extent, Chinese, other Asians, and blacks

Alpha thalassemias occur most commonly in people from southeast Asia and China, and are caused by deletion of a gene or genes from the globin chain. The most severe form of alpha thalassemia causes a stillborn fetus.More info: