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  • Title: Combined hereditary deficiency of the sixth component of complement and factor VIII coagulant activity in a Dutch family.
    Author: Daha MR, Bertina RM, Thompson J, Kauffmann RH, Nicholson-Weller A, Veltkamp JJ, Briët E.
    Journal: Clin Exp Immunol; 1982 Jun; 48(3):733-8. PubMed ID: 6811172.
    Abstract:
    Prompted by previous observations of defective blood clotting in rabbits deficient in the sixth component of complement (C6), and the discovery of a patient with both C6 and factor VIII deficiency, an evaluation was made of the haemostatic functions in this individual and his family members. The family contained three members homozygous for C6 deficiency (C6D); two of them were deficient also in factor VIII. In addition, one other member of the family was only deficient in factor VIII. The only C6D member without haemophilia 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 in this study with purified human C6 did not result in a change in the recalcification time. The results obtained from this study also indicate that there is no linkage between the inheritance of C6 and factor VIII.
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