Annals of Hematology

, Volume 88, Issue 10, pp 951–955

Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene

  • Albert Altès
  • Vanessa Bach
  • Angels Ruiz
  • Anna Esteve
  • Jordi Felez
  • Angel F. Remacha
  • M. Pilar Sardà
  • Montserrat Baiget
Original Article

DOI: 10.1007/s00277-009-0705-y

Cite this article as:
Altès, A., Bach, V., Ruiz, A. et al. Ann Hematol (2009) 88: 951. doi:10.1007/s00277-009-0705-y
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Abstract

Most hereditary hemochromatosis (HH) patients are homozygous for the C282Y mutation of the HFE gene. Nevertheless, penetrance of the disease is very variable. In some patients, penetrance can be mediated by concomitant mutations in other iron master genes. We evaluated the clinical impact of hepcidin (HAMP) and hemojuvelin mutations in a cohort of 100 Spanish patients homozygous for the C282Y mutation of the HFE gene. HAMP and hemojuvelin mutations were evaluated in all patients by bidirectional direct cycle sequencing. Phenotype–genotype interactions were evaluated. A heterozygous mutation of the HAMP gene (G71D) was found in only one out of 100 cases. Following, we performed a study of several members of that family, and we observed several members had a digenic inheritance of the C282Y mutation of the HFE gene and the G71D mutation of the HAMP gene. This mutation in the HAMP gene did not modify the phenotype of the individuals who were homozygous for the C282Y mutation. One other patient presented a new polymorphism in the hemojuvelin gene, without consequences in iron load or clinical course of the disease. In conclusion, HAMP and hemojuvelin mutations are rare among Spanish HH patients, and their impact in this population is not significant.

Keywords

HFE Hepcidin HAMP Hemojuvelin Hemochromatosis Iron metabolism 

Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • Albert Altès
    • 1
  • Vanessa Bach
    • 4
  • Angels Ruiz
    • 2
  • Anna Esteve
    • 2
  • Jordi Felez
    • 3
  • Angel F. Remacha
    • 4
  • M. Pilar Sardà
    • 4
  • Montserrat Baiget
    • 4
  1. 1.Hematology DepartmentAlthaia FoundationManresaSpain
  2. 2.Laboratori Hospital de l’Esperit SantSanta Coloma de GramenetSpain
  3. 3.ABS CanaletesCerdanyola del VallésSPAIN
  4. 4.Hematology and Genetics DepartmentsHospital de Sant PauBarcelonaSpain

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