Hereditary Hemochromatosis, DNA Analysis Labcorp

Hereditary hemochromatosis (HFE related) is an autosomal recessive iron storage disorder. Patients may have a genetic diagnosis of hereditary hemochromatosis and never show clinical symptoms. Clinical symptoms typically appear between 40 to 60 years in males and after menopause in females. Signs and symptoms may include organ damage, primarily in the liver, risk for hepatocellular carcinoma, diabetes, and heart disease due to iron accumulation. Life expectancy may be decreased in individuals who develop cirrhosis. Treatment for clinically symptomatic individuals may include therapeutic phlebotomy. Liver transplant may be used to treat end stage liver failure. For preventive care, monitoring for iron overload is recommended for patients who are homozygous for c.845G>A (p.Cys282Tyr) and have yet to experience clinical symptoms. The most common HFE variants associated with hereditary hemochromatosis are c.845G>A (p. Cys282Tyr), c.187C>G (p.His63Asp), c.193A>T (p. Ser65Cys). While patients homozygous for c.845G>A (p.Cys282Tyr) are the most likely to present clinical symptoms, less than 10% develop clinically significant iron overload with tissue and organ damage. Genetic coordinators are available for health care providers to discuss results and for information on how to order additional testing, if desired, at 1-800-345-GENE.