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Blood Diseases

What increases my risk for thalassemia?

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  • It is estimated that 60 to 80 million people worldwide carry the beta thalassemia trait, and an estimated 1,000 cases of thalassemia exist in the United States. Beta thalassemia is considered to be a fairly common blood disorder that is thought to affect several thousand infants every year.

    Certain populations have a higher frequency of thalassemia. Beta thalassemia is more common among people of Mediterranean origin (Greek, Italian, Middle Eastern) and people of Asian and African descent. Alpha thalassemias mostly affect people of Southeast Asian, Indian, Chinese, or Filipino origin. Individuals with a family history of thalassemia have a higher risk of developing the disorder.

    Autosomal recessive inheritance: Thalassemia is caused by a mutation in a gene that contains the instructions for making hemoglobin. Most thalassemias are inherited as an autosomal recessive trait except in a very small percentage of beta thalassemia cases. Therefore, individuals who inherit two copies of this mutation (one from each parent) will develop thalassemia. Individuals who inherit only one copy of the mutation may not have symptoms of thalassemia but are known as "carriers" (thalassemia trait or thalassemia minor) because they can pass on the mutation to their children.

    If one parent has thalassemia and the other parent does not carry the trait, then all of the children will be carriers. If one parent has thalassemia and the other parent is a carrier, then each child has a 50% chance of having thalassemia and a 50% chance of being a carrier. If both parents have thalassemia, then all of their children will also have thalassemia.

    Autosomal dominant inheritance: In a very small percentage of beta thalassemia cases, the disorder is inherited as an autosomal dominant trait. This means that just one copy of the mutated gene is needed for the disorder to occur. In other words, if one parent has beta thalassemia, there is a 50% chance that his/her child will have the disorder. If both parents have beta thalassemia, there is a 75% chance that the child will inherit the condition.

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