Prevalence of HFE genotypes, C282Y and H63D, in patients with hematologic disorders

Iron status has implications for normal erythrocyte and leukocyte function and for platelet count, size and activation. Increased storage of iron is considered a potential risk factor participating in the pathogenesis of malignant diseases. Since HFE gene mutations have recently been implicated in unbalanced iron homeostasis, we set out to examine the prevalence of these mutations in patients with hematologic disorders.

C282Y and H63D mutations were determined in 232 patients with various hematologic disorders treated at Oulu University Hospital between 1987 and 2000. DNA samples extracted from either the peripheral blood or bone marrow of these patients were amplified by a polymerase chain reaction (PCR) method using sequence-specific primers, and the products were analyzed on agarose gels.

There was a slight tendency towards lower frequencies of the C282Y allele in patients with acute myeloid leukemia (AML) (3.8%, n=53) and higher frequencies in those with essential thrombocythemia (ET) (16.2%, n=37). Contrary to some expectations, however, the frequency of the C282Y allele in acute lymphoblastic leukemia turned out to be normal (7.0%, n=43). Our data showed no significant deviations in H63D mutation frequency in any of the categories of patients.

Our results do not show any significant association between HFE gene mutations and hematologic malignancies. The divergent frequencies observed for the C282Y mutation in patients with AML and ET highlight the need for larger population studies of HFE mutations in patients with hematologic diseases.