Factor XI deficiency: genetic and clinical studies of a single kindred.
A four-generation 25-member kindred with Factor XI:C deficiency is reported. Factor XI:C levels in heterozygotes varied from 15 to 58%, 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.
Litz
C E
CE
Department of Laboratory Medicine, Veterans Administration Medical Center, Minneapolis, MN 55417.
Swaim
W R
WR
Dalmasso
A P
AP
D000328:Adult; D001780:Blood Coagulation Tests; D001789:Blood Group Antigens / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005172:Factor XI / Q000032:analysis; D005173:Factor XI Deficiency / Q000097:blood / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007592:Joint Diseases / Q000097:blood / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010146:Pain / Q000097:blood / Q000235:genetics; D010375:Pedigree
D001789:Blood Group Antigens; D005172:Factor XI