Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism with a gene frequency of 1/10 people of Northern European origin. The homozygote frequency is 1/200 to 1/400, making it one of the most common genetic disorders known. Clinical manifestations include abdominal pain, arthritis, liver cirrhosis, skin pigmentation, diabetes, cardiomyopathy, and hypogonadism. Prognosis if left untreated is related to the development of cirrhosis with an expected loss of 10 years from life expectancy. Treatment is readily available and consists of phlebotomy to remove excess iron. Life expectancy is normal in treated individuals.

The gene responsible for hereditary hemochromatosis (HFE) has been recently isolated and a single base pair substitution mutation has been shown to be present in greater than 80% of patients.

Heterozygotes and homozygotes are detected using a simple PCR genetic assay. The assay to detect this mutation is available in the Allina Molecular Diagnostics Laboratory.

Genetic counseling is available by calling the Allina Molecular Diagnostics Lab. The Molecular Diagnostic Lab's team of certified genetic counselors will help with any questions about the test or issues for families.

REFERENCES:

1. Feder JN, Gnirke A, Thamoa W et al. A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis. Nat Genet 13(4):399-408, 1996.
2. Adams PC, Chakrabarti S. Genotypic/phenotypic correlations in genetic hemochromatosis: evolution of diagnostic criteria. Gastroenterology 114:319-323, 1998.
3. Rosendaal FR, Siscovick DS, Schwartz SM et al. A common prothrombin variant (20210 G to A) increases the risk of myocardial infarction in young women. Blood 90:1747-1750, 1997.