Frequency of human hemochromatosis HFE gene mutations and serum Hepcidin Level in iron overload β-thalassaemia Iraqi patients

Naeem Mohammed Mohsen Al-Abedy, Ehab Dawood Salman, Safa A Faraj
2019 Annals of Tropical Medicine and Public Health  
Thalassemia is an important hematological disorder. Iron overload is the main cause of morbidity and mortality in patients with β-thalassemia. The possibility of iron overload development may be increased by Interaction between thalassemia and HFE gene mutations. This study aims to investigate the possible association between serum hepcidin level as an indicator of iron concentration and the presence of HFE gene mutations or the effects of these gene's polymorphisms on blood hepcidin level and
more » ... ron overload in the beta-thalassemia patients. Methods: A eighty two of β-thalassaemia (56 BTM and 26 BTI) patients and fifty normal controls were included in this study. Hepcidin levels along with iron parameter were determined. We assessed the frequency of the H63D, C282Y and S65C mutation of the HFE gene and the correlation between these mutations and the iron overload in β-thalassemia patients. Genotyping of H63D, C282Y, and S65C of HFE variants performed by T-Plex real-time PCR.. Results: Serum hepcidin level was found to be reduced in BTI and BTM patients as compared to controls .Hepcidin level is significantly lower in BTM compared to control (P<0.001). High serum ferritin level and serum iron are detected in BTM and BTI patients as compared to controls. Among 82 β -thalassaemia (56 BTM and 26 BTI) tested, the observed C282Y, H63D and S65C allele frequency were 4.46%, 15.1% and 1.7% respectively in β-thalassaemia major, 1.9%, 11.5% and 2% respectively in β-thalassaemia intermediate and 2%, 6% and 0.0% respectively in the control group. The S65C was uncommon or rare and we found one subject heterozygous for S65C mutation in BTI and two in BTM. We did not observe any subject with compound heterozygote mutation. Conclusion: We observed that there was not a statistical significance correlation between the Hepcidin levels and the presence of HFE mutations (p value = 0.10).The controversies about the relation between HFE mutations and hepcidin in iron overload β-thalassaemia patients still need more studies considering novel factors and mutations involved in such mechanisms such as ferroportin, hemojuvelin, β-globin, and transferrin receptor-2 (TFR2).
doi:10.36295/asro.2019.221023 fatcat:ruu6qbrivza7xk37dwph2ufkvy