Hereditary Hemochromatosis Mutation (C282Y, H63D and S65C), PCR


Hereditary Haemochromatosis (HH) is a genetic disease inherited in an autosomal recessive manner that causes increased intestinal iron absorption. HFE protein (a product of a major histocompatibility complex class I-like gene ) is believed to facilitate transferrin-mediated uptake of iron by crypt cells of the duodenum. Three missense mutations in the HFE gene (C282Y, Hereditary Haemochromatosis Mutation (C282Y, H63D and S65C), PCR H63D and the recently discovered S65C) have been identified. In North European populations between 80 -100 % of affected individuals carry the c282y homozygous mutation. However, the rate of C282Y homozygous mutation is lower in affected Mediterranean and South European individuals. Only a small percentage of individuals with a compound heterozygous mutation suffer from symptoms, whereas, H63D homozygous mutation is only rarely associated with disease. The S65C causes a milder form of the disease. Increased iron absorption leads to the accumulation of iron in the parenchyma of the liver, pancreas, heart, and other organs resulting in structural damage and functional impairment of these organs.


This test is used in the diagnosis of Hereditary Haemochromatosis. A negative result however, does not completely rule out HH since there are non-HFE-related conditions of HH.

Sample Type, Quantity & Conditions

3 ml EDTA Whole Blood Room Temperature

Special Precautions

Collect in EDTA vacutainer tube. Avoid contamination with DNA of phlebotomist and send tube unopened. Avoid haemolysed samples. Do not freeze samples.

Normal Range

No Mutation Detected

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