Skip to main content
NCBI home page
Clinical and Experimental Immunology logoLink to Clinical and Experimental Immunology
. 1982 Jun;48(3):733–738.

Combined hereditary deficiency of the sixth component of complement and factor VIII coagulant activity in a Dutch family.

M R Daha, R M Bertina, J Thompson, R H Kauffmann, A Nicholson-Weller, J J Veltkamp, E Briët
PMCID: PMC1536627  PMID: 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.

Full text

PDF
733

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Agnello V. Complement deficiency states. Medicine (Baltimore) 1978 Jan;57(1):1–23. doi: 10.1097/00005792-197801000-00001. [DOI] [PubMed] [Google Scholar]
  2. Breckenridge R. T., Rosenfeld S. I., Graff K. S., Leddy J. P. Hereditary C5 deficiency in man. III. Studies of hemostasis and platelet responses to zymosan. J Immunol. 1977 Jan;118(1):12–16. [PubMed] [Google Scholar]
  3. Daha M. R., Fearon D. T., Austen K. F. C3 nephritic factor (C3NeF): stabilization of fluid phase and cell-bound alternative pathway convertase. J Immunol. 1976 Jan;116(1):1–7. [PubMed] [Google Scholar]
  4. Daha M. R., Van Es L. A. Enhanced alternative complement pathway-dependent degradation of soluble immunoglobulin aggregates by macrophages. Immunology. 1981 Jul;43(3):513–518. [PMC free article] [PubMed] [Google Scholar]
  5. Delâge J. M., Lehner-Netsch G., Lafleur R., Simard J., Brun G., Prochazka E. Simultaneous occurrence of hereditary C6 and C2 deficiency in a French-Canadian family. Immunology. 1979 Jun;37(2):419–428. [PMC free article] [PubMed] [Google Scholar]
  6. Heusinkveld R. S., Leddy J. P., Klemperer M. R., Breckenridge R. T. Hereditary deficiency of the sixth component of complement in man. II. Studies of hemostasis. J Clin Invest. 1974 Feb;53(2):554–558. doi: 10.1172/JCI107589. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Leddy J. P., Frank M. M., Gaither T., Baum J., Klemperer M. R. Hereditary deficiency of the sixth component of complement in man. I. Immunochemical, biologic, and family studies. J Clin Invest. 1974 Feb;53(2):544–553. doi: 10.1172/JCI107588. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Mittal K. K., Wolski K. P., Lim D., Gewurz A., Gewurz H., Schmid F. R. Genetic independence between the HL--A system and deficits in the first and sixth components of complement. Tissue Antigens. 1976 Feb;7(2):97–104. doi: 10.1111/j.1399-0039.1976.tb01038.x. [DOI] [PubMed] [Google Scholar]
  9. Petersen B. H., Graham J. A., Brooks G. F. Human deficiency of the eighth component of complement. The requirement of C8 for serum Neisseria gonorrhoeae bactericidal activity. J Clin Invest. 1976 Feb;57(2):283–290. doi: 10.1172/JCI108279. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Petersen B. H., Lee T. J., Snyderman R., Brooks G. F. Neisseria meningitidis and Neisseria gonorrhoeae bacteremia associated with C6, C7, or C8 deficiency. Ann Intern Med. 1979 Jun;90(6):917–920. doi: 10.7326/0003-4819-90-6-917. [DOI] [PubMed] [Google Scholar]
  11. Podack E. R., Kolb W. P., Müller-Eberhard H. J. Purification of the sixth and seventh component of human complement without loss of hemolytic activity. J Immunol. 1976 Feb;116(2):263–269. [PubMed] [Google Scholar]
  12. Veltkamp J. J., Drion E. F., Loeliger E. A. Detection of the carrier state in hereditary coagulation disorders. I. Thromb Diath Haemorrh. 1968 Mar 31;19(1):279–303. [PubMed] [Google Scholar]
  13. Veltkamp J. J., van Tilburg N. H. Detection of heterozygotes for recessive von Willebrand's disease by the assay of antihemophilic-factor-like antigen. N Engl J Med. 1973 Oct 25;289(17):882–885. doi: 10.1056/NEJM197310252891703. [DOI] [PubMed] [Google Scholar]
  14. WHITTAKER D. L., COPELAND D. L., GRAHAM J. B. Linkage of color blindness to hemophilias A and B. Am J Hum Genet. 1962 Jun;14:149–158. [PMC free article] [PubMed] [Google Scholar]
  15. Zimmerman T. S., Arroyove C. M., Müller-Eberhard H. J. A blood coagulation abnormality in rabbits deficient in the sixth component of complement (C6) and its correction by purified C6. J Exp Med. 1971 Dec 1;134(6):1591–1600. doi: 10.1084/jem.134.6.1591. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Clinical and Experimental Immunology are provided here courtesy of British Society for Immunology

RESOURCES