What Do We Know About Heredity and Sickle Cell Disease?

    A doctor wearing goggles examining a vial of blood from a tray of vialsSickle cell disease is the most common inherited blood disorder
    in the United States. Approximately 80,000 Americans have the
    disease.

    In the United States, sickle cell disease is most prevalent
    among African Americans. About one in 12 African Americans and about one in 100
    Hispanic Americans carry the sickle cell trait, which means they are carriers of
    the disease.

    Sickle cell disease is caused by a mutation in the
    hemoglobin-Beta gene found on chromosome 11. Hemoglobin transports oxygen from
    the lungs to other parts of the body. Red blood cells with normal hemoglobin
    (hemoglobin-A) are smooth and round and glide through blood vessels.

    In people with sickle cell disease, abnormal hemoglobin
    molecules – hemoglobin S – stick to one another and form long, rod-like
    structures. These structures cause red blood cells to become stiff, assuming a
    sickle shape. Their shape causes these red blood cells to pile up, causing
    blockages and damaging vital organs and tissue.

    Sickle cells are destroyed rapidly in the bodies of people with
    the disease, causing anemia. This anemia is what gives the disease its commonly
    known name – sickle cell anemia.

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