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Comparable levels of activity and antigen in factor XII deficiency: a study of 21 homozygotes and 58 heterozygotes.

Abstract
Results of coagulation studies on 21 homozygote patients with factor XII (FXII) deficiency revealed that all of them had no cross-reacting material (CRM) in their plasma. The 58 heterozygotes had in every instance an antigen level comparable to that of clotting activity namely, approximately 50% of normal. An analysis of all pertinent literature also showed that the presence of CRM is very rare in FXII deficiency. CRM is present in approximately 5% of homozygote patients. More precisely, seven of 145 patients. Only in one case, the antigen level was normal (FXII Washington). This prevalence appears lower than that observed for another contact phase factor (prekallikrein). The significance of blood abnormal forms of FXII has not been completely clarified yet. Their study appears useful in the attempt of clarifying the structure-function relation of factor XII.
AuthorsA Girolami, S Gavasso, E Pacquola, L Cabrio, A M Lombardi, B Girolami
JournalClinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis (Clin Appl Thromb Hemost) Vol. 11 Issue 3 Pg. 335-8 (Jul 2005) ISSN: 1076-0296 [Print] United States
PMID16015420 (Publication Type: Comparative Study, Journal Article)
Chemical References
  • Factor XII
Topics
  • Blood Coagulation
  • Factor XII (genetics)
  • Factor XII Deficiency (genetics)
  • Heterozygote
  • Homozygote
  • Humans
  • Reference Values

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