The prognostic role of hemochromatosis H63D allele in allogeneic hematopoietic stem cell transplantation.

摘要: Iron overload is considered as a significant cause of morbidity and mortality in hematopoietic stem cell transplant (HSCT) recipients. The presence hemochromatosis gene (HFE) mutations might exacerbate iron toxicity the post-transplant setting. This prospective study was planned to evaluate genetic spectrum HFE Turkish patients undergoing HSCT impact genotype on mortality. genotypes 102 [median age, 27.5 years (16-64 years); male/female, 73:29], who underwent allogeneic HSCT, were analyzed. Twenty-two heterozygous 1 patient homozygous for H63D mutation, while C282Y mutation observed none our patients. frequency invasive fungal infections (IFI) significantly higher H63D-mutated (p=0.004). identified an independent risk factor development IFI (p=0.006, OR=0.554, SE=0.208), without overall survival transplant-related multifactorial iron-overloaded state recipients affect phenotypic expression alter severity clinical presentation. parameters should be validated with further studies.