Introduction

Hereditary hemochromatosis (OMIM #235200) is an autosomal recessive disorder of iron metabolism that affects 1/200 to 1/400 Caucasians of central, northern, and western European descent. Some Hispanics also develop hemochromatosis that is phenotypically and genotypically similar to that in Caucasians. Other iron overload disorders in Caucasians, most of which are uncommon, share some clinical and biochemical features with ''classic'' hemo-chromatosis, although they are associated with mutations in other genes. Iron overload in other racial/ethnic groups also differs phenotypically and genotypically from ''classic'' Caucasian hemochromatosis.

In some persons with hemochromatosis, excessive iron accumulation in parenchymal cells can lead to hepatic cirrhosis, primary liver cancer, arthropathy, diabetes mellitus, hypogonadism, and cardiomyopathy, if untreated. Diagnosis is usually based on detection of elevated serum transferrin saturation in the absence of other demonstrable cause. Iron overload is characterized by elevation of serum ferritin concentration or hepatic iron concentration, or by quantitative phlebotomy to achieve iron depletion. Complications of hemochromatosis can be prevented by early diagnosis and simple, effective treatment to remove excess iron and maintain low normal body iron stores (therapeutic phlebotomy). Because hemochromatosis is common, easily diagnosed, and readily treatable, it has become a public health concern in a large fraction of the world's population.

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