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Is there a ‘Basque’ profile regarding autosomal recessive deficiencies of coagulation factors? *
Author(s) -
Bauduer F.,
Ducout L.,
Dutour O.,
Degioanni A.
Publication year - 2004
Publication title -
haemophilia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.213
H-Index - 92
eISSN - 1365-2516
pISSN - 1351-8216
DOI - 10.1111/j.1365-2516.2004.00892.x
Subject(s) - haemophilia , medicine , coagulation , epidemiology , von willebrand disease , disease , genetics , population , coagulation disorder , haemophilia a , von willebrand factor , pediatrics , immunology , biology , pathology , environmental health , platelet
Summary. When excluding haemophilia and von Willebrand disease, coagulation factors deficiencies constitute rare autosomal recessive disorders (<1 in 500 000) of less precisely defined epidemiology. We have reported herein the distribution of these entities in the French Basque Country, a genetic isolate of very old individualization with peculiar biological specificities. The prevalence of these disorders was markedly high, especially, as already shown, factor XI deficiency. This unusual profile needs to be discussed in the view of population genetics.