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Article

Combined factor VIII/factor XI deficiency may cause intra-familial clinical variability in haemophilia A among Ashkenazi Jews.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Feb 1994

Berg L P, Varon D, Martinowitz U, Wieland K, Kakkar V V, Cooper D N

Abstract excerpt

Heterozygous factor XI deficiency occurs very frequently among Ashkenazi Jews. To investigate the potential influence of a co-inherited factor XI deficiency state on the clinical phenotype of mild/moderate haemophilia A, 28 unrelated haemophiliacs of Jewish origin were screened for the two most common factor XI gene mutations. Gene lesions were identified in two out of 14 patients of Ashkenazi origin. In the one...

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Identifiers

PMID: 8180339
DOI: 10.1097/00001721-199402000-00009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Combined factor VIII/factor XI deficiency may cause intra-familial clinical variability in haemophilia A among Ashkenazi Jews.PMID 8180339Read ↗

Four novel FXI gene mutations in three factor XI- deficient patients.Semantic proximity Read ↗

Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations.Semantic proximity Read ↗

One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews.Semantic proximity Read ↗

Factor XI deficiency in Ashkenazi Jews in Israel.Semantic proximity Read ↗

A molecular genetic study of factor XI deficiency.Semantic proximity Read ↗

The Two Common Mutations Causing Factor XI Deficiency in Jews Stem From Distinct Founders: One of Ancient Middle Eastern Origin and Another of More Recent European OriginSemantic proximity Read ↗

Type I mutation in the F11 gene is a third ancestral mutation which causes factor XI deficiency in Ashkenazi Jews.Semantic proximity Read ↗

Factor XI mutation and the origin of Ashkenazi Jews.Semantic proximity Read ↗

Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping.Semantic proximity Read ↗

A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency.Semantic proximity Read ↗

Identification of two novel mutations in non-Jewish factor XI deficiency.Semantic proximity Read ↗

Dominant factor XI deficiency caused by mutations in the factor XI catalytic domainSemantic proximity Read ↗

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