Inherited factor V deficiency. Study of a Brazilian family.
Isolated Factor V deficiency is a very rare inherited coagulopathy. A genealogy of Brazilian Caucasians, where this disorder occurs, is reported. In this family, which was located because 2 affected individuals having the same surname were found by chance, the genealogical and laboratory data suggest an autosomal recessive pattern of inheritance. Nevertheless, the existence of deceased individuals who were reported as symptomatic seems to imply that some heterozygotes may present occasional bleeding episodes.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D003241:Consanguinity; D005165:Factor V / Q000235:genetics; D005166:Factor V Deficiency / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree
D005165:Factor V