A new family with congenital factor XIII deficiency showing a deficit of both subunit A and B. Type I factor XIII deficiency.
In this study we present a new case of Factor XIII deficiency. The proposita, a 34 year old woman, showed a deficiency of both subunit a and subunit b, and a moderate bleeding tendency. Because of the concomitant decrease of subunits a and b the proposita is considered to be an example of Type I disease. Factor XIII levels were less than 10% both as activity and antigen. Several family members showed intermediate levels of both subunit a and b and were asymptomatic. They were considered to be heterozygotes. The hereditary pattern is autosomal incompletely recessive. Type I disease appears much less frequent than Type II.
D000328:Adult; D005176:Factor XIII; D005177:Factor XIII Deficiency / Q000097:blood / Q000145:classification / Q000151:congenital* / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D007118:Immunoassay; D010375:Pedigree; D013916:Thrombelastography; D011503:Transglutaminases
D005176:Factor XIII; C054380:factor XIIIb; D011503:Transglutaminases