Juvenile hemochromatosis

An autosomal recessive disorder of iron metabolism in which excessive iron storage results in hypogonadism, cardiomyopathy, cirrhosis, and joint disease in individuals before the age of 30. Patients with juvenile hemochromatosis do not have mutations in the HFE protein, the protein responsible for hemochromatosis in adults. The mutation in juvenile hemochromatosis is found on chromosome 1.


 


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