Association of frequency of hereditary hemochromatosis (HFE) gene mutations (H63D and C282Y) with iron overload in beta-thalassemia major patients in Pakistan

Comment on: Hemochromatosis (HFE) gene mutations (H63D and C282Y) and iron overload in beta-thalassemia major

“…3 Those factors have be controlled and recognized before conclusion of the effect of the HFE polymorphisms. Nevertheless, if we focus on HFE polymorphism as a single factor regardless other possible confounding factors, the basic molecular change due to each HFE polymorphism can well explain the observation by Sharif et al 1 Based on the quantum molecular weight calculation as presented in the previous referencing publications, 4,5 the molecular weight changes HFE H63D and C282Y are <22 and +60 g/Mol, respectively. The decreased molecular weight in H63D is contrast to increased molecular weight in C282 Y and it can be a clue for explanation the observed increased chance for iron overload in H63D.…”

“…We read with interest the study reported by Sharif et al 1 They concluded that "H63D polymorphism is associated with iron overload in BTM patients." 1 Indeed, there ae several factors that relates to the iron overload in BTM patients. There are also other underlying genetic factors that might superimpose the iron overload.…”

Prevalence of Iron Overload and Chelation Therapy in patients of Thalassemia Major and Knowledge and Attitude of Population towards Iron Chelation Therapy in Sargodha, Pakistan

“…Exact data on how many patients of beta thalassemia major are transfused daily in Pakistan is not available. One of the complications of transfusion is iron overload which further has its own dreadful consequences 8,9,10 . This study was aimed to measure the prevalence of iron overload and chelation therapy in patients of thalassemia major and knowledge and attitude of population towards iron chelation therapy in Sargodha, Pakistan.…”

“…Normally in anemia hepcidin levels are reduced to increase plasma iron concentrations as in thalassemia intermedia 7 . In thalassemia major due to increased plasma iron concentrations secondary to multiple transfusions hepcidin levels are raised but body is unable to excrete that iron resulting in increased transferrin saturation and increased plasma labile iron which is highly toxic and starts depositing in cardiac, hepatic and endocrinal glands and tissues 8,9,10 . Thus it results in cardiomyopathy, hepatic cirrhosis, diabetes mellitus, hypogonadism, dwarfism and bronze skin 11 .…”