Heterozygosity of H63D and C282Y HFE Genotypes: A Genetic Modifier of Iron Deficiency Anaemia

Abstract

Introduction: HFE geneis a key regulator of iron hemostasis. In mutant condition it leads to iron overload, but in heterozygous condition it absorbs iron more efficiently than wild type conditions. A balanced polymorphism is one in which the beneficial effect of the heterozygous state balances the deleterious effect of the homozygous state. Thus our objective was to determine the gene frequency of the three HFE mutations and to relate genotypes to various clinical and laboratory variables. Materials & Method: Study subjects were 435 iron deficiency anaemia patients and 560 age and sexmatched healthy controls. The complete blood count and red cell indices were measured by an automated cell analyzer (SYSMEX K-4500, Kobe Japan). Serum ferritin level was used to estimate the iron status of patients. Serum ferritin and CRP were measured by ELISA technique while ESR analysis was done according to Wintrobes’s method Results: Among the IDA patients, 19 were heterozygous for H63D mutation. Six IDA patients were heterozygous for C282Y mutation, while S63C mutation was not identified in subjects. Controls were presenting 0.71% H63D homozygous frequency while neither patients nor control were presenting C282Y homozygous mutation. Heterozygous were identified with frequency of 4.46 and 1.6% in H63D and C282Y mutations in controls respectively. Conclusion: Heterozygotes for HFE mutations had a lower prevalence of iron deficiency anaemia, thereby conferring protection against iron deficiency and iron deficiency anemia. Screening for HFE mutations may be useful tool in grading of IDA. Conflict of Interest: Authors declare no conflict of interest.