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

Abstract

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 family analysed further, co-inheritance of both factor XI and factor VIII deficiencies was associated with a bleeding tendency that was more severe than that associated with either deficiency alone.

• Authors: L P Berg, D Varon, U Martinowitz, K Wieland, V V Kakkar, D N Cooper
• Journal: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis (Blood Coagul Fibrinolysis) Vol. 5 Issue 1 Pg. 59-62 (Feb 1994) ISSN: 0957-5235 [Print] England
• PMID: 8180339 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• endodeoxyribonuclease BsmI
• Deoxyribonucleases, Type II Site-Specific
• GATC-specific type II deoxyribonucleases

Topics

• Base Sequence
• Deoxyribonucleases, Type II Site-Specific
• Factor XI Deficiency (complications)
• Hemophilia A (complications, genetics)
• Jews
• Molecular Sequence Data
• Mutation
• Phenotype
• Polymerase Chain Reaction