Hereditary Hemochromatosis

Hereditary hemochromatosis (HH) is a common autosomal recessive disorder that results in morbidity and premature mortality from excessive iron overload. The frequency of the disease is about 1 in 400 Caucasian individuals and the carrier frequency is 1 in 10.

Hemochromatosis develops insidiously in mid-adulthood with excessive iron accumulating in various organs including the pancreas, liver and heart. Patients later suffer from diabetes, cirrhosis, arthritis, liver cancer, and cardiac dysfunction which may cause early death. The diagnosis of HH is difficult because of the non-specific symptoms resulting from iron overload.

HH is associated with two mutations in the HFE gene, C282Y and H63D. Approximately 85% of the patients with HH are homozygous for the C282Y mutation. In addition, the H63D mutation results in an increased risk for the disease when in combination with the C282Y mutation.

REASONS FOR REFERRAL:

• Confirmation of diagnosis in affected individuals.

• Carrier identification of individuals with relatives affected with HH

TESTING METHODOLOGY:

• PCR amplification of a specific region of the HFE gene, followed by mutation specific restriction enzyme digestion to detect the C282Y and H63D mutations.

SPECIMEN REQUIREMENTS:

• Blood EDTA (purple top) tubes:  

            Newborn: minimum 1-2 mL          

            Child/Adult: prefer 2 tubes of 3-5 mL

• Prenatal testing: Please contact the laboratory for instructions.

TURNAROUND TIME:     8 working days

CPT CODES: