Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene

Article Abstract:

There may be other gene mutations besides the C282Y mutation of the hemochromatosis (HFE) gene. The C282Y mutation of the HFE gene is the most common mutation associated with this disease, which is characterized by excessive blood levels of iron that can damage the body. In a study of 53 members of a family, 15 had symptoms of hemochromatosis and 13 had elevated blood levels of iron. However, none of the 15 had the C282Y mutation. Five had another mutation of the HFE gene, but no other mutations were found in the remaining 10 people.

Genetic aspects

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Prevalence of genetic hemochromatosis in a cohort of Italian patients with diabetes mellitus

Article Abstract:

All diabetic patients should be tested for hemochromatosis, especially those with type 2 diabetes. Italian researchers tested 894 diabetic patients and 467 non-diabetic patients for hemochromatosis, which is characterized by iron overload. Twelve of the diabetic patients had previously undiagnosed hemochromatosis, compared to only one of the non-diabetic patients. Thus, the diabetic patients were six times more likely to have hemochromatosis. Iron overload can damage the liver, leading to cirrhosis and possible liver cancer.

Health aspects, Diagnosis, Diabetics

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Hereditary Hemochromatosis - A new look at an old disease

Article Abstract:

The diseases like diabetes, Bronz pigmentation of the skin,and cirrhosis were first described in 19th century is now become clear that they were hereditary and was caused by deposites of iron in the tissue the hereditary hemochromatosis is most common in most population of Europe.

Science & research, Research, Genetic disorders

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