Genetic hemochromatosis is a rare disease entity among French Basques: A center-based study from the General Hospital of Basque Country

Robert R. Clancy, Susan A. McGaurn, Gil Wernovsky, Thomas L. Spray, William I. Norwood, Marshall L Jacobs, John D. Murphy, J. William Gaynor, James E. Goin

Research output: Contribution to journalArticle

Abstract

A center-based study from the general hospital of Basque country has been performed to evaluate the importance of genetic hemochromatosis among French Basques. A sample of 37 patients from 34 families fulfilling the diagnosis criteria of hemochromatosis was obtained. Only four of them were of Basque origin: two homozygotes for C282Y, one homozygote for H63D, and one heterozygote for C282Y. These results suggest a significant lower prevalence of genetic hemochromatosis in Basques than in people from other French regions (P=0.001). They underline further the biological specificity of this population.

Original languageEnglish (US)
Pages (from-to)472-473
Number of pages2
JournalAnnals of Hematology
Volume80
Issue number8
DOIs
StatePublished - 2001
Externally publishedYes

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Hemochromatosis
Rare Diseases
General Hospitals
Homozygote
Heterozygote
Population

Keywords

  • Basques
  • C282Y mutation
  • H63D mutation
  • Hereditary hemochromatosis
  • Population genetics

ASJC Scopus subject areas

  • Hematology

Cite this

Genetic hemochromatosis is a rare disease entity among French Basques : A center-based study from the General Hospital of Basque Country. / Clancy, Robert R.; McGaurn, Susan A.; Wernovsky, Gil; Spray, Thomas L.; Norwood, William I.; Jacobs, Marshall L; Murphy, John D.; Gaynor, J. William; Goin, James E.

In: Annals of Hematology, Vol. 80, No. 8, 2001, p. 472-473.

Research output: Contribution to journalArticle

Clancy, RR, McGaurn, SA, Wernovsky, G, Spray, TL, Norwood, WI, Jacobs, ML, Murphy, JD, Gaynor, JW & Goin, JE 2001, 'Genetic hemochromatosis is a rare disease entity among French Basques: A center-based study from the General Hospital of Basque Country', Annals of Hematology, vol. 80, no. 8, pp. 472-473. https://doi.org/10.1007/s002770100326
Clancy, Robert R. ; McGaurn, Susan A. ; Wernovsky, Gil ; Spray, Thomas L. ; Norwood, William I. ; Jacobs, Marshall L ; Murphy, John D. ; Gaynor, J. William ; Goin, James E. / Genetic hemochromatosis is a rare disease entity among French Basques : A center-based study from the General Hospital of Basque Country. In: Annals of Hematology. 2001 ; Vol. 80, No. 8. pp. 472-473.
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