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What do we know about heredity and thalassemia

Thalassemia is a group of inherited or genetic diseases that affect the body's ability to produce hemoglobin, usually resulting in anemia. Hemoglobin, a protein found in red blood cells, is necessary for carrying oxygen throughout the body. Thalassemia is passed to children by parents who carry the gene for the disease. There are many different types of thalassemia, ranging from mild to life-threatening or fatal without blood transfusions and appropriate treatment.

Thalassemia trait, also known as Mediterranean anemia, is one of the most common genetic disorders. Rarely resulting in illness, it affects hundreds of millions of people around the world. Each year about 100,000 babies are born with severe forms of thalassemia. The disease occurs most often in people of Italian, Greek, Middle Eastern, South and Southeast Asian, and African ancestry. The type and severity of the illness is determined by the specific genetic abnormality present.

Today, better understanding of the causes of thalassemia and comprehensive treatments are improving life expectancy and allowing many people with the disease to live productive lives well into adulthood.

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Thalassemia Minor: Understanding the Silent Carrier

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Diagnosis

Thalassemia can be diagnosed in different ways. Some types can be found on routine blood tests that show that the red blood cells are small or the patient is anemic. Testing of parents can be done before pregnancy to determine whether there is a risk of having a child with a severe form of thalassemia. The illness can be seen in sophisticated genetic testing, and can be found prenatally through amniocentesis or chorionic villus sampling (CVS).
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