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Inheritance and bleeding in factor XI deficiency.

P H Bolton-Maggs1, B Young Wan-Yin, A H McCraw

  • 1Academic Department of Haematology, Royal Free Hospital, London.

British Journal of Haematology
|August 1, 1988
PubMed
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Factor XI deficiency is an autosomal inherited bleeding disorder. This study found heterozygotes can exhibit bleeding symptoms, even with factor XI levels above 50 u/dl.

Area of Science:

  • Hematology
  • Genetics
  • Inherited bleeding disorders

Background:

  • Factor XI deficiency is a bleeding disorder with variable clinical presentation.
  • Understanding its inheritance patterns and clinical expression is crucial for patient management.

Purpose of the Study:

  • To investigate the inheritance patterns of factor XI deficiency.
  • To correlate factor XI levels with bleeding tendency.
  • To estimate the gene frequency in specific populations.

Main Methods:

  • Analysis of 20 Jewish and four non-Jewish kindreds (164 individuals).
  • Measurement of factor XI levels in affected and unaffected individuals.
  • Pedigree analysis to determine inheritance patterns and mating frequencies.

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Main Results:

  • Confirmed autosomal inheritance with severe deficiency in homozygotes and partial deficiency in heterozygotes.
  • Developed a graph to predict heterozygote probability based on factor XI levels.
  • Observed a high frequency of heterozygote-to-heterozygote mating in Jewish families, suggesting a gene frequency of 13.4%.
  • Found a poor correlation between factor XI level and bleeding tendency; one-third of heterozygotes experienced excessive bleeding post-surgery, some with levels >50 u/dl.
  • Established the lower limit of the normal range for factor XI at 72 u/dl.

Conclusions:

  • Factor XI deficiency exhibits clear signs of expression in heterozygotes, challenging the notion of asymptomatic carriers.
  • The high gene frequency in Jewish populations warrants further investigation and potential screening strategies.
  • Clinical management should consider the potential for bleeding in heterozygotes, irrespective of precise factor XI levels.