Fischer R R, Giddings J C, Roisenberg I
Departamento de Genetica, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Clin Lab Haematol. 1988;10(1):53-62. doi: 10.1111/j.1365-2257.1988.tb01153.x.
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.
