Factor XI deficiency: Genetic and clinical studies of a single kindred

✍ Scribed by Craig E. Litz; William R. Swaim; Agustin P. Dalmasso

• Publisher: John Wiley and Sons
• Year: 1988
• Tongue: English
• Weight: 435 KB
• Volume: 28
• Category: Article
• ISSN: 0361-8609
• DOI: 10.1002/ajh.2830280103

✦ Synopsis

A four-generation 25-member kindred with Factor XI:C deficiency is reported. Factor XI:C levels in heterorygotes varied from 15 to 58940, suggesting that Factor XI:C values for homozygote determination should be less than 15%. The frequency of bleeding was not correlated with Factor XI:C levels in this range. Individuals with joint pain had significantly lower Factor XI:C levels than members without joint pain and pain occurred more frequently in frequent bleeders. Lod scores showed no close genetic linkage of Factor XI:C deficiency with blood group MNSs (chromosome 4), complement components Bf and C4B (chromosome 6), or blood group P.