title: HFE gene mutation and iron overload in Egyptian pediatric acute lymphoblastic leukemia survivors: a single-center study.
abstract: BACKGROUND
  Hereditary hemochromatosis gene (HFE) mutations have a role in iron overload in pediatric acute lymphoblastic leukemia (ALL) survivors. We aimed to evaluate the genotype frequency and allelic distribution of the two HFE gene mutations (C282Y and H63D) in a sample of Egyptian pediatric ALL survivors and to detect the impact of these two mutations on their iron profile.
  
  
  METHODS
  This study was performed on 35 ALL survivors during their follow-up visits to the Hematology and Oncology Unit, Pediatric Department, Menoufia University Hospitals. Thirty-five healthy children of matched age and sex were chosen as controls. After completing treatment course, ALL survivors were screened for the prevalence of these two mutations by polymerase chain reaction-restriction fragment length polymorphism. Serum ferritin levels were measured by an enzyme-linked immunosorbent assay technique (ELISA).
  
  
  RESULTS
  C282Y mutation cannot be detected in any of the 35 survivors or the 35 controls. The H63D heterozygous state (CG) was detected in 28.6% of the survivors group and in 20% of controls, while the H63D homozygous (GG) state was detected in 17.1% of survivors. No compound heterozygosity (C282Y/H63D) was detected at both groups with high G allele frequency (31.4%) in survivors more than controls (10%). There were significant higher levels of iron parameters in homozygote survivors than heterozygotes and the controls.
  
  
  CONCLUSIONS
  H63D mutation aggravates the iron overload status in pediatric ALL survivors.
authors.affiliation: a Department Pediatrics, Faculty of Medicine , Menoufia University , Shebin El-Kom , Egypt.
authors.forename: Farida H
authors.initials: FH
authors.lastname: El-Rashedi
authors.affiliation: a Department Pediatrics, Faculty of Medicine , Menoufia University , Shebin El-Kom , Egypt.
authors.forename: Mahmoud A
authors.identifier: http://orcid.org/0000-0002-3420-922X
authors.initials: MA
authors.lastname: El-Hawy
authors.affiliation: b Department of Biochemistry, Faculty of Medicine , Menoufia University , Shebin El-Kom , Egypt.
authors.forename: Sally M
authors.initials: SM
authors.lastname: El-Hefnawy
authors.affiliation: c Department Pediatrics , Benha Educational Hospital , Benha , Egypt.
authors.forename: Mona M
authors.initials: MM
authors.lastname: Mohammed
mesh_terms: D000293:Adolescent; D000483:Alleles; D000886:Anthropometry; D015415:Biomarkers; D002648:Child; D002675:Child, Preschool; D004534:Egypt; D005260:Female; D005500:Follow-Up Studies; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D000071020:Hemochromatosis Protein / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000097:blood; D019190:Iron Overload / Q000097:blood / Q000175:diagnosis / Q000209:etiology*; D008297:Male; D009154:Mutation; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000150:complications* / Q000188:drug therapy / Q000235:genetics*; D017741:Survivors
chemical_list: D015415:Biomarkers; D000071020:Hemochromatosis Protein; D007501:Iron
keywords: ALL; HFE; iron; survivors