Abstract |
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.
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Authors | P H Bolton-Maggs, B Young Wan-Yin, A H McCraw, J Slack, P B Kernoff |
Journal | British journal of haematology
(Br J Haematol)
Vol. 69
Issue 4
Pg. 521-8
(Aug 1988)
ISSN: 0007-1048 [Print] England |
PMID | 3408688
(Publication Type: Journal Article)
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Chemical References |
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Topics |
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Child
- Child, Preschool
- Factor XI
(analysis)
- Factor XI Deficiency
(blood, genetics)
- Female
- Hemorrhage
(etiology)
- Heterozygote
- Homozygote
- Humans
- Male
- Middle Aged
- Pedigree
- Risk
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