title: Influence of iron regulating genes mutations on iron status in Egyptian patients with sickle cell disease.
abstract: Mutations of the HAMP gene and HFE gene have a role in iron overload. We assessed the frequency of the G71D mutation of the HAMP gene and the H63D mutation of the HFE gene and the correlation between these mutations as well as the correlation between them and the iron overload in sickle cell disease (SCD) patients. Genotyping of G71D of HAMP and of H63D of HFE variants was performed by polymerase chain reaction-restriction fragment length polymorphism on 47 SCD patients and 45 controls. The iron status was assessed by serum ferritin and transferrin saturation. We found 61.7% of the patients had a wild genotype in both genes, 14.9% had a variation in HAMP-G71D, 27.7% had a variation in HFE-H63D, and 4.3% had variations in both. Patients with either HAMP-G71D or HFE-H63D variants did not show significant difference in iron status in comparison to patients with wild type genotypes. Multivariate regression analysis revealed that the number of mutations harbored by the patients tends to affect the serum ferritin level; p=0.07. Thus, The HAMP-G71D and HFE-H63D variants are not uncommon among the Egyptian SCD patients; neither of them alone was found to be a major determinant of iron overload in the studied patients. Nevertheless, the number of harboured mutations may increase the probability of iron overload in these patients.
authors.affiliation: Department of Clinical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Hala A
authors.initials: HA
authors.lastname: Abdel Rahman
authors.affiliation: Department of Clinical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Heba H
authors.initials: HH
authors.lastname: Abou-Elew
authors.affiliation: Department of Clinical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Reem M
authors.initials: RM
authors.lastname: El-Shorbagy
authors.affiliation: Department of Clinical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.
authors.forename: Rania
authors.initials: R
authors.lastname: Fawzy
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt ilhamyoussry@yahoo.com ilhamyoussry@gmail.com.
authors.forename: Ilham
authors.initials: I
authors.lastname: Youssry
mesh_terms: D000293:Adolescent; D000328:Adult; D000755:Anemia, Sickle Cell / Q000097:blood / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004534:Egypt; D004587:Electrophoresis, Agar Gel; D005260:Female; D005838:Genotype; D064451:Hepcidins / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000502:physiology*; D008297:Male; D015999:Multivariate Analysis; D009154:Mutation / Q000235:genetics*; D012015:Reference Standards
chemical_list: C578702:HAMP protein, human; D064451:Hepcidins; D007501:Iron
keywords: HAMP; HFE; iron overload; sickle cell disease