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


Reference Range

Hereditary hemochromatosis is an autosomal recessive disease cause by deficient iron metabolism. In middle age (at between 40 and 50 years of age), untreated patients suffer serious complications including cirrhosis, diabetes, arthropathy, heart disease, bronze pigmentation of the skin, loss of pituitary function and liver cancer. If the disease is diagnosed at an early stage, its worst consequences can be avoided by periodic therapeutic phlebotomy. Genetic diagnosis is based on looking for mutations C282Y and H63D in the HFE gene on chromosome 6. Only homozygosity for the C282Y mutation establishes a definite diagnosis with the current state of understanding. If an individual is diagnosed with this mutation, it should be explained why other members of the family should be tested. The homozygosity for the S65C mutation is not associated with a full phenotypic haemochromatosis profile but is inconsistently associated with an increase in the transferrin saturation coefficient.

Special Requirements

Results released on Mon. & Thu. Collect in EDTA vacutainer tube. Avoid contamination with DNA of phlebotomist and send tube unopened. Avoid haemolysed samples. Do not freeze samples.

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