Hereditary hemochromatosis.
Hereditary hemochromatosis (HH) is an autosomal recessive iron overload disorder that affects more than one million Americans. This underdiagnosed disorder is associated with high morbidity and mortality, which can be prevented with early identification and treatment. A DNA test that can identify asymptomatic at-risk individuals before biochemical indicators are positive is available commercially. Nurses need current knowledge about HH for two main reasons: (1) to ensure that at-risk individuals receive comprehensive information before genetic testing, and (2) to play a significant role in preventing chronic morbidity and premature death caused by HH.
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Clinical Nurse Specialist, Department of Genetics, Divisions of Patient Services and Human Genetics, Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA. prowc0@chmcc.org
D000328:Adult; D002648:Child; D005260:Female; D005820:Genetic Testing; D005838:Genotype; D006432:Hemochromatosis / Q000235:genetics* / Q000451:nursing / Q000503:physiopathology / Q000628:therapy; D006801:Humans; D008297:Male; D010641:Phenotype