Hereditary combined deficiency of clotting factors V and VIII with involvement of von Willebrand factor.
A family is described in which two brothers, with a significant haemorrhagic disorder, are affected by combined factor V/VIII deficiency. In one of these patients an abnormal decrease of von Willebrand factor was also observed. Family studies suggest that both of the brothers are homozygous for a recessive gene. Normal laboratory results were found in eight other family members although seven of them had reported a mild bleeding tendency. The results indicate that hereditary combined factor V/VIII deficiency is a heterogeneous disorder and that defects of von Willebrand factor might be involved in the aetiology of the disease in some families.
Fischer
R R
RR
Departamento de Genetica, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Giddings
J C
JC
Roisenberg
I
I
D000328:Adult; D001780:Blood Coagulation Tests; D005166:Factor V Deficiency / Q000097:blood / Q000150:complications / Q000235:genetics*; D005260:Female; D006467:Hemophilia A / Q000097:blood / Q000150:complications / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D014841:von Willebrand Factor / Q000235:genetics*
D014841:von Willebrand Factor