Genetic Variations of ferroportin-1(FPN1-8CG), TMPRSS6 (rs855791) and Hemojuvelin (I222N and G320V) Among a Cohort of Egyptian β-Thalassemia Major Patients.

Autor: El-Gharbawi N; Clinical Pathology Department, Cairo University, Cairo, Egypt., Shaheen I; Clinical Pathology Department, Cairo University, Cairo, Egypt., Hamdy M; Pediatric Hematology, Department of pediatrics, Cairo University, Cairo, Egypt., Elgawhary S; Clinical Pathology Department, FayoumUniversity, Fayoum, Egypt., Samir M; Pediatric Cardiology, Department of Pediatrics, Cairo University, Cairo, Egypt., Hanna BM; Pediatric Cardiology, Department of Pediatrics, Cairo University, Cairo, Egypt., Ali EY; Clinical Pathology Department, FayoumUniversity, Fayoum, Egypt., Youssef EA; Clinical Pathology Department, Cairo University, Cairo, Egypt.; Lecturer of Hematopathology, Department of Clinical and chemical pathology, Cairo University, Cairo, Egypt.; Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, 11562 Cairo, Egypt.
Jazyk: angličtina
Zdroj: Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion [Indian J Hematol Blood Transfus] 2023 Apr; Vol. 39 (2), pp. 258-265. Date of Electronic Publication: 2022 Nov 01.
DOI: 10.1007/s12288-022-01580-8
Abstrakt: Iron overload remains a major cause of morbidity and mortality among β-thalassemia major (β-TM) patients. Iron regulatory proteins and their genetic variants together with changes in hepcidin levels in thalassemic patients could affect the disease manifestations. This work aimed to study genetic variations of ferroportin-1 (FPN1-8CG), Transmembrane Serine Protease 6 (TMPRSS6 rs855791) and hemojuvelin (HJV I222N and G320V) genes within a cohort of 97 β-TM Egyptian patients by Polymerase chain reaction Restriction Fragment Length Polymorphism (PCR-RFLP) in comparison to fifty normal control subjects. Among β-TM patients; the CG variant of FPN1 was significantly higher, while the TT and TC variants of TMPRSS6 were significantly lower in comparison to controls. Liver Iron Concentration (LIC) was significantly higher among β-TM patients harboring the FPN1 (GG) genotype and we found that FPN1gene mutation acts as independent predictor of MRI LIC (p = 0.011), Pulmonary artery pressure (PAP) was significantly higher in patients harboring the mutant FPN1 (GG and CG) genotypes (p value 0.04). β-TM patients having the HJV I222N (AA) genotype were having significantly higher cardiac iron overload (p value = 0.026). The studied genetic variants of iron regulatory proteins could alter the manifestations of iron overload thus resulting in different clinical phenotypes of thalassemic patients, these findings need to be confirmed by larger cohorts of patients with longer follow-up periods.
Supplementary Information: The online version contains supplementary material available at 10.1007/s12288-022-01580-8.
Competing Interests: Conflict of InterestAll authors declare no conflict of interest.Conflicts of interest/Competing InterestsThe authors declare no conflict of interests.Conflict of Interest:All Authors declare that they have no conflict of interest. The manuscript has not been submitted elsewhere nor previously published. All authors have contributed to the manuscript in significant ways, have reviewed and agreed upon the manuscript content.
(© The Author(s) 2022.)
Databáze: MEDLINE
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