title: 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.
authors: University of Padua Medical School, Department of Medical and Surgical Science, Padua, Italy.
authors: A
authors: A
authors: Girolami
authors: S
authors: S
authors: Gavasso
authors: E
authors: E
authors: Pacquola
authors: L
authors: L
authors: Cabrio
authors: A M
authors: AM
authors: Lombardi
authors: B
authors: B
authors: Girolami
mesh_terms: D001777:Blood Coagulation; D005174:Factor XII / Q000235:genetics*; D005175:Factor XII Deficiency / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D012016:Reference Values
chemical_list: D005174:Factor XII