Effect of HFE Gene Mutations on Iron Metabolism of Beta-Thalassemia Carriers

The human hemochromatosis protein HFE is encoded by the gene and participates in iron regulation. aim of this study was to detect most frequent mutations a control population β-thalassemia trait (BTT) carriers, their relationship with metabolism. Total blood count, hemoglobin electrophoresis at alkaline pH, HbA2 quantification, (Fe), total Fe binding capacity ferritin were assayed. analyzed real-time PCR. A 119 individuals (69 normal 50 BTT) examined. In group, 9% (6/69) presented codon 282 heterozygous mutation (C282Y), 19% 63 (H63D) (13/69, 11 heterozygotes 2 homozygotes). BTT 3 carriers (6%) for C282Y, 14 (28%) H63D, 1 (2%) 65 H63D C282Y double heterozygous. Control group metabolism did not show significant differences (p > 0.05) according whether or they carried an mutation; while without showed higher than < 0.05). However, no increases parameters detected that simultaneously exhibited compared subjects mutation. Therefore, alterations observed could be attributed presence mutations. It likely have other genetic modifiers affect balance.