Is there a ‘Basque’ profile regarding autosomal recessive deficiencies of coagulation factors?*
- 11 March 2004
- journal article
- Published by Wiley in Haemophilia
- Vol. 10 (3) , 276-279
- https://doi.org/10.1111/j.1365-2516.2004.00892.x
Abstract
Http://www.blackwell-synergy.com/doi/full/10.1111/j.1365-2516.2004.00892.xInternational audienceWhen 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 geneticsKeywords
This publication has 9 references indexed in Scilit:
- Distribution of haemophilia in the French Basque countryHaemophilia, 2002
- Inherited coagulation disorders in southern IranHaemophilia, 2002
- Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI geneBlood, 2002
- AUTOSOMAL RECESSIVE DEFICIENCIESOF COAGULATION FACTORSReviews in Clinical and Experimental Hematology, 2001
- Combined factor V and VIII deficiency in Indian populationHaemophilia, 2000
- Factor XI deficiency in the French Basque CountryHaemophilia, 1999
- Combined factors V and VIII deficiency — the solutionHaemophilia, 1998
- The rarer inherited coagulation disorders: A reviewBlood Reviews, 1995
- The Prevalence of Moderate and Severe FXII (Hageman Factor) Deficiency among the Normal Population: Evaluation of the Incidence of FXII Deficiency among 300 Healthy Blood DonorsThrombosis and Haemostasis, 1994