A population-based study of the clinical expression of the hemochromatosis gene

Article Abstract:

Many people who have a gene mutation for hemochromatosis may have a relatively mild form of the disease. Hemochromatosis is a disorder of iron metabolism that leads to iron deposits in many organs, including the liver. In a study of 3,011 people, 0.5% had two copies of the C282Y mutation in the hemochromatosis (HFE) gene. Only half of these 16 people had symptoms of hemochromatosis and four had normal blood levels of iron. Liver biopsies from 11 showed that only 3 had liver damage.

Gene mutations, Prognosis, Gene mutation

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Hemochromatosis and iron-overload screening in a racially diverse population

Article Abstract:

Hemochromatosis and Iron Overload Screening (HFE) genotypes, levels of serum ferritin, transferrin saturation values, and self-reported medical history were studied in a multiethnic primary care population. The results indicate that the C282Y mutation is most common in whites, and most C282Y homozygotes have elevations in serum ferritin levels and tranferrin saturation.

United Kingdom, Diagnosis, Iron metabolism disorders

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Iron-overload-related disease in HFE hereditary hemochromatosis

Article Abstract:

The prevalence of iron-overload-related disease for C282Y homozygotes is examined. Findings reveal the development of iron-overload-related disease in a substantial proportion of men due to elevated levels of serum ferritin and transferrin saturation.

United States, Risk factors, Transferrin, Ferritin, Clinical report

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