New clinic dedicated to genetic disorders

Med. Cemter sponsors world' first clinicMed. Cemter sponsors world' first clinicdedicated to examination of hemochromatosis The University of Pennsylvania medical center is now the sponsor of the world's first clinic dedicated to diagnosing and treating hemochromatosis. Genetics specialists at the University established the clinic to aid the research and treatment of the genetic disorder which causes an excessive iron buildup in the body. The clinic will offer services including screening, education, treatment and counseling for patients diagnoses with the disease. The clinic is also to become a resource to provide patients and physicians with information of hemochromatosis. Hemochromatosis is the most common of all genetic diseases, according to the national Iron Overload Disease Association. Over one million adults and children are affected by the disease. According to a press release from the Health System, the majority of these cases are "highly curable" but warrant early detection to avoid complications such as long-term disease. If hemochromatosis is not treated early, those afflicted suffer the consequences of excessive iron which accumulates in major organs such as the heart, pancreas, pituitary gland, liver and muscular joints. The excess iron may cause such complications as congestive heat failure, diabetes, impotence and early menopause, liver cirrhosis or cancer, arthritis and bronzed skin. "Once detected, simple and preventive treatment is available for all patients," Christopher Friedrich, an assistant professor of medicine in the division of Medical Genetics, said in a press release. "Patients may lead normal, active lives once properly treated." Preliminary screening will be done at the clinic through the means of a simple blood test which "measures 'transferon saturation' -- an indicator of excessive iron in the blood," according to the release. If tests show a toxic build-up , the cure is the removal of blood from the body. "If you've ever given blood, then you understand the treatment process," Friedrich said. "We simply run an IV into your arm and withdraw a pint of blood." Friedrich added that early diagnosis and treatment can prevent organ damage and, in some cases, reverse prior damage. According to the release, the center will be staffed by a multidisciplinary team of genetic experts and is supported by the division of Clinical Genetics in the Department of Medicine. The Division of Clinical Genetics will also provide services for adults diagnosed with, or suspected of having, other inherited diseases such as Marfan Syndrome and Gaucher disease.

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