Document Detail

Inheritance and bleeding in factor XI deficiency.
MedLine Citation:
PMID:  3408688     Owner:  NLM     Status:  MEDLINE    
A study of 20 Jewish and four non-Jewish kindreds transmitting factor XI deficiency (164 individuals) confirmed inheritance to be autosomal with severe deficiency in homozygotes (mean factor XI level 3.8 u/dl, SD 2.91) and partial deficiency in heterozygotes (mean factor XI level 57 u/dl, SD 10.42; normal mean factor XI level 96 u/dl, SD 11.6). The probability of an individual being heterozygous can be predicted from the factor XI level using a graph derived from this data. The accuracy is increased by including the prior probability derived from the pedigree. A high frequency of heterozygote to heterozygote mating was observed in the Jewish families consistent with an estimated gene frequency of 13.4% in this racial group. The relationship between factor XI level and bleeding tendency is poor; a third of heterozygotes had bled excessively after surgery, including six with factor XI levels above 50 u/dl, showing this condition to have clear signs of expression in heterozygotes. The lower limit of the normal range (2 SDs from the mean) was found to be 72 u/dl.
P H Bolton-Maggs; B Young Wan-Yin; A H McCraw; J Slack; P B Kernoff
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  British journal of haematology     Volume:  69     ISSN:  0007-1048     ISO Abbreviation:  Br. J. Haematol.     Publication Date:  1988 Aug 
Date Detail:
Created Date:  1988-10-12     Completed Date:  1988-10-12     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0372544     Medline TA:  Br J Haematol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  521-8     Citation Subset:  IM    
Academic Department of Haematology, Royal Free Hospital, London.
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MeSH Terms
Aged, 80 and over
Child, Preschool
Factor XI / analysis
Factor XI Deficiency / blood,  genetics*
Hemorrhage / etiology
Middle Aged
Reg. No./Substance:
9013-55-2/Factor XI

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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