Prevention of Thalassemia

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    Types and Causes

    • The two types and two forms of thalassemia are alpha and beta, and major and minor, respectively. Alpha thalassemia, which occurs primarily in those of Middle Eastern, Chinese and African descent, is characterized by mutated genes related to the alpha globin protein; and beta thalassemia, which occurs primarily in those of Mediterranean descent, is characterized by defective genes affecting the normal production of the beta globin protein. The condition is considered minor if the gene is inherited from a single parent, while a major designation requires a gene inherited from both parents. Beta thalassemia major is given the name Cooley's anemia.

    Symptoms

    • Symptoms of thalassemia are dependent on their type and form. For example, alpha thalassemia major can cause children to be born stillborn, and beta thalassemia major can result in anemia that typically occurs during the child's first year. Other possible symptoms include fatigue, jaundice (yellow skin), facial bone deformities and a swelling of the spleen and liver. Those diagnosed with a minor form of either type typically have no symptoms, though red blood cells appear small when viewed through a microscope.

    Prevention

    • Given that all forms of thalassemia are genetic, the only method of prevention involves the decision to not have children and thus eliminate the risk of handing it down to your child. Genetic counseling, which involves determining if you possess any underlying genetic conditions that can be handed down, is typically used to help potential parents make crucial decisions not just for themselves, but for their children as well. A positive diagnosis for the thalassemia gene does not necessarily mean that you can't have children; although the risk is high, it gives the parents an opportunity to learn more about the condition to plan for any problems that might arise after the baby is born.

      If you suspect or are currently suffering from thalassemia and intend on having children, consult with your physician about the possibility of genetic counseling.

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