Annals of Hematology

, Volume 84, Issue 12, pp 802–806 | Cite as

Mutation analysis of the HFE gene associated with hereditary hemochromatosis in a Venezuelan sample

  • Esmeralda Vizzi
  • Carmen Luisa Loureiro
  • Marlene Gerder
  • María de las Nieves Garcia-Casal
  • Alvaro Rodríguez-Larralde
  • Letizia Gerace
  • Juan Ernesto Ludert
  • Ferdinando Liprandi
  • Flor Helene Pujol
Original Article


The frequency of the C282Y, H63D and S65C alleles of the HFE gene was determined in a sample of the Venezuelan population. Two new sets of primers were tested for amplifying the regions mapping these mutations, and genotyping was performed by restriction fragment length polymorphism (RFLP). DNA sequencing was used to validate the RFLP analysis. Serum ferritin levels were also determined. Two hundred and fourteen individuals were tested, extracting DNA from whole blood cells (n=177) or from serum (n=37). The frequency of heterozygous subjects was 3.7, 18.2 and 1.7% for the C282Y, H63D and S65C mutations, respectively, and the allele frequencies were 0.019±0.01 for C282Y, 0.119±0.016 for H63D and 0.009±0.005 for S65C. The results suggest that the admixture of native populations with subjects of South European origin might have had an important role in the diffusion of HFE alleles in Venezuela. C282Y homozygous subjects were not found in this study. No HFE genotype studied here was associated with a significant elevation of serum ferritin concentrations, except for C282Y/H63D compound heterozygote found in one asymptomatic male. This finding supports the theory that the H63D mutation could be involved in alterations of iron parameters when inherited together with C282Y. Our results indicate that C282Y homozygotes will be rarely detected. Performance of HFE mutation analysis in individuals with high iron determinations would be recommended.


Hereditary hemochromatosis HFE gene mutations Venezuelan population 



The authors thank Dr. M.G. Uzcátegui and Dr. L. Arias for the blood donor samples collection. This study was partially supported by the Proyecto Aplicado de Biotecnología 2001, from Instituto Venezolano de Investigaciones Científicas (IVIC) and Proyecto Iniciativa Científica del Milenio (FONACIT)—Ministerio de Ciencias y Tecnología, Venezuela. All the experiments performed in this research complied with the current laws of Venezuela and were approved by the IVIC Ethics Committee.


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Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • Esmeralda Vizzi
    • 1
  • Carmen Luisa Loureiro
    • 2
  • Marlene Gerder
    • 1
  • María de las Nieves Garcia-Casal
    • 3
  • Alvaro Rodríguez-Larralde
    • 4
  • Letizia Gerace
    • 5
  • Juan Ernesto Ludert
    • 1
  • Ferdinando Liprandi
    • 1
  • Flor Helene Pujol
    • 2
  1. 1.Laboratorio de Biología de VirusCentro de Microbiología y Biología Celular, Instituto Venezolano de Investigaciones CientíficasCaracasVenezuela
  2. 2.Laboratorio de Virología MolecularCentro de Microbiología y Biología Celular, IVICCaracasVenezuela
  3. 3.Laboratorio de FisiopatologíaCentro de Medicina Experimental, IVICCaracasVenezuela
  4. 4.Laboratorio de Genética HumanaCentro de Medicina Experimental, IVICCaracasVenezuela
  5. 5.Molecular Biology Core LabMonzaItaly

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