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

doi:10.1007/s002770100326

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 journal › Article › peer-review

8 Scopus citations

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 language	English (US)
Pages (from-to)	472-473
Number of pages	2
Journal	Annals of hematology
Volume	80
Issue number	8
DOIs	https://doi.org/10.1007/s002770100326
State	Published - 2001
Externally published	Yes

Keywords

Basques
C282Y mutation
H63D mutation
Hereditary hemochromatosis
Population genetics

ASJC Scopus subject areas

Hematology

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10.1007/s002770100326

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

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.",

keywords = "Basques, C282Y mutation, H63D mutation, Hereditary hemochromatosis, Population genetics",

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

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T1 - Genetic hemochromatosis is a rare disease entity among French Basques

T2 - A center-based study from the General Hospital of Basque Country

AU - Clancy, Robert R.

AU - McGaurn, Susan A.

AU - Wernovsky, Gil

AU - Spray, Thomas L.

AU - Norwood, William I.

AU - Jacobs, Marshall L.

AU - Murphy, John D.

AU - Gaynor, J. William

AU - Goin, James E.

PY - 2001

Y1 - 2001

N2 - 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.

AB - 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.

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KW - C282Y mutation

KW - H63D mutation

KW - Hereditary hemochromatosis

KW - Population genetics

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

Abstract

Keywords

ASJC Scopus subject areas

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