Is there a 'Basque' profile regarding autosomal recessive deficiencies of coagulation factors?
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.
Bauduer
F
F
Laboratory of Hematology, Centre Hospitalier de la Côte Basque, Bayonne, France. fbauduer001@chcb.rss.fr
Ducout
L
L
Dutour
O
O
Degioanni
A
A
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000208:ethnology / Q000235:genetics*; D020147:Coagulation Protein Disorders / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005602:France / Q000208:ethnology; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged