Literature DB >> 21977233

Frequencies of HFE gene mutations associated with haemochromatosis in the population of Libya living in Benghazi.

Samir Elmrghni, Ron A Dixon, D Ross Williams.   

Abstract

THE STUDIES OF THE HFE MUTATIONS: H63D and C282Y in North African populations have revealed the extreme rarity or even the absence of the C282Y mutation. We have examined 200 chromosomes (100 Libyan people live in Benghazi) for the presence of the two HFE mutations by PCR-RFLP analysis by using PCR conditions used to amplify both Autosomal and Y chromosomal STRs. We have found that the allele frequencies are, respectively, 17% for the H63D and 0% for the C282Y. These results are consistent with the worldwide spread of the H63D mutation and the north European restriction of the C282Y.

Entities:  

Keywords:  Benghazi; C282Y; H63D; HFE gene mutations; Libyan population; allele frequency; haemochromatosis

Year:  2011        PMID: 21977233      PMCID: PMC3182512     

Source DB:  PubMed          Journal:  Int J Clin Exp Med        ISSN: 1940-5901


  17 in total

1.  Global prevalence of putative haemochromatosis mutations.

Authors:  A T Merryweather-Clarke; J J Pointon; J D Shearman; K J Robson
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

2.  A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.

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Journal:  Nat Genet       Date:  1996-08       Impact factor: 38.330

3.  Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States.

Authors:  K K Steinberg; M E Cogswell; J C Chang; S P Caudill; G M McQuillan; B A Bowman; L M Grummer-Strawn; E J Sampson; M J Khoury; M L Gallagher
Journal:  JAMA       Date:  2001-05-02       Impact factor: 56.272

4.  Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls.

Authors:  M Sánchez; M Bruguera; J Bosch; J Rodés; F Ballesta; R Oliva
Journal:  J Hepatol       Date:  1998-11       Impact factor: 25.083

5.  A cheaper and more rapid polymerase chain reaction-restriction fragment length polymorphism method for the detection of the HLA-H gene mutations occurring in hereditary hemochromatosis.

Authors:  C Lynas
Journal:  Blood       Date:  1997-11-15       Impact factor: 22.113

6.  Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal.

Authors:  M Roth; P Giraldo; G Hariti; E S Poloni; A Sanchez-Mazas; G F Stefano; J M Dugoujon; H Coppin
Journal:  Immunogenetics       Date:  1997       Impact factor: 2.846

Review 7.  Iron overload disorders: treatment options for patients refractory to or intolerant of phlebotomy.

Authors:  Penny Bring; Nilufar Partovi; Jo-Ann E Ford; Eric M Yoshida
Journal:  Pharmacotherapy       Date:  2008-03       Impact factor: 4.705

8.  Frequency and spectrum of hemochromatosis mutations in Tunisia.

Authors:  Amine Zorai; Cornelis L Harteveld; Radhouane Rachdi; Koussay Dellagi; Salem Abbes; Paola Delbini; Piero C Giordano
Journal:  Hematol J       Date:  2003

9.  Hereditary hemochromatosis: time for targeted screening.

Authors:  Pradyumna D Phatak; Herbert L Bonkovsky; Kris V Kowdley
Journal:  Ann Intern Med       Date:  2008-08-19       Impact factor: 25.391

10.  Heterogeneity of hemochromatosis in Italy.

Authors:  A Piperno; M Sampietro; A Pietrangelo; C Arosio; L Lupica; G Montosi; A Vergani; M Fraquelli; D Girelli; P Pasquero; A Roetto; P Gasparini; S Fargion; D Conte; C Camaschella
Journal:  Gastroenterology       Date:  1998-05       Impact factor: 22.682

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  3 in total

1.  Telomere length and elevated iron: the influence of phenotype and HFE genotype.

Authors:  Arch G Mainous; Robert U Wright; Mary M Hulihan; Waleed O Twal; Christine E McLaren; Vanessa A Diaz; Gordon D McLaren; W Scott Argraves; Althea M Grant
Journal:  Am J Hematol       Date:  2013-05-13       Impact factor: 10.047

2.  Frequency of Hereditary Hemochromatosis Gene (HFE) Variants in Sri Lankan Transfusion-Dependent Beta-Thalassemia Patients and Their Association With the Serum Ferritin Level.

Authors:  Padmapani Padeniya; Hemali Goonasekara; Gayan Abeysekera; Rohan Jayasekara; Vajira Dissanayake
Journal:  Front Pediatr       Date:  2022-07-12       Impact factor: 3.569

3.  Molecular analysis of homeostatic iron regulator, transmembrane protease serine-6, and BTB domain-containing protein-9 variants and iron parameters in blood donors.

Authors:  Manal S Fawzy; Abeer Fakhr-Eldeen; Baraah T Abu AlSel; Eman A Toraih
Journal:  Biosci Rep       Date:  2021-01-29       Impact factor: 3.840

  3 in total

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