Hereditary hemochromatosis (HH) is a genetic disorder of iron metabolism which leads to irregular iron absorption from the intestine and iron overload in patients diagnosed with the disease. The majority of patients with clinical iron overload are homozygous for the C282Y mutation in the HFE gene, however C282Y/H63D heterozygosities are reported in some patients. In this study, we report a case of compound heterozygosity (C282Y/H63D) in the HFE gene.

C282Y and H63D mutations were evaluated via 5' nuclease real time PCR analysis. Serum ferritin was measured by electro-chemiluminescence immunoassay while transferrin was determined via nepholometric method. Other biochemical parameters were measured by Roche Hitachi Cobas 8000 Modular Analyzer.

The patient had increased serum ferritin and transferrin saturation. C282Y/H63D compound heterozygote mutations were determined in the patient that was subsequently diagnosed with hereditary hemochromatosis.

Conclusion: Screening of HFE mutations in all patients and first degree relatives that have increased serum ferritin and transferrin saturation will enable the diagnosis of HH.