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Hereditary Hemochromatosis

An Algorithmic Approach to Diagnosis



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Hereditary Hemochromatosis

Slide 19

January 2009

Hereditary hemochromatosis is associated with alterations in the HFE protein, identified by assessing the DNA sequences responsible for coding of the HFE protein changes of C282Y or H63D. More than 85% of patients with clinical hereditary hemochromatosis are either homozygous for the cysteine to tyrosine amino acid change or are compound heterozygous for both mutations at 282 and 63. Individuals who are heterozygous for the 282 or 63 amino acid changes are not at risk for developing hereditary hemochromatosis.

Hereditary Hemochromatosis

 


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