COMBINED HEREDITARY-DEFICIENCY OF THE 6TH COMPONENT OF COMPLEMENT AND FACTOR-VIII COAGULANT ACTIVITY IN A DUTCH FAMILY

  • 1 January 1982
    • journal article
    • research article
    • Vol. 48  (3) , 733-738
Abstract
Prompted by previous observations of defective blood clotting in rabbits deficient in the 6th complement component (C6), and the discovery of a patient with both C6 and factor VIII deficiency, an evaluation was made of the hemostatic functions in this individual and his family members. The family contained 3 members homozygous for C6 deficiency (C6D); 2 were also deficient in factor VIII. One other member of the family was only deficient in factor VIII. The only C6D member without hemophilia A had a normal recalcification time without clinical symptoms of a bleeding disorder. Reconstitution of factor VIII and C6 deficient plasma from the various members of the family with purified human C6 did not result in a change in the recalcification time. There apparently is no linkage between the inheritance of C6 and factor VIII.