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Hemochromatosis

Raising Awareness of This Genetic Disorder

By Teri Brown

Pages:  1  2  3  4  5  

This disease can occur as the result of chronic blood transfusions or an overdosing on iron pills. This condition is not usually included in discussion of hemochromatosis.

  • Neonatal hemochromatosis (NH): This may have the same name, but is a very different disease. According to Dr. Whitington, NH is a gestational alloimmune disease – that is, the mother develops antibody against the fetus. The antibody crosses the placenta and injures the fetal liver, which results in iron being miss-distributed to other fetal tissues, which results in the "hemochromatosis phenotype." It is an immune disease of the mother that affects her babies, rather than a genetic disease of the babies, so it is fundamentally different from other hemochromatosis. It is almost always fatal.

    "Neonatal hemochromatosis is considered to be very rare, but it is not," says Dr. Whitington. "We are learning that it is a fairly common cause of fetal loss and of very sick newborns. The diagnosis is often missed even at autopsy. The more exposure and awareness there is, the more likely it will be diagnosed and the mother spared the agony of having another child."

    The likelihood of a mother having another child with the neonatal hemochromatosis is over 80 percent. Whitington says they are on the verge of a breakthrough on how to test for the antibodies in the mother's body that will eventually lead to treatment options.

    Helping Hands
    Sandra Thomas is the founder and president of the American Hemochromatosis Society (AHS). Its purpose is to educate the public and support victims of hereditary hemochromatosis. Thomas founded it in honor of her mother, Josephine Bogie Thomas, who died in May of 1999 from the disease.

    "It is particularly important to raise awaren

    Pages:  1  2  3  4  5  

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