Combined factor V and factor VIII deficiency with normal protein C and protein C inhibitor. A family study.
Combined deficiency of factor V and factor VIII, a rare bleeding disorder, is reported in a Syrian family. 2 siblings, 10 and 6 yr old are affected. They had mild bleeding manifestations. Their prothrombin time and partial thromboplastin time were prolonged, but thrombin time was normal. Both had low levels of factor V, (6% and 7%), factor VIII, (both 10%) factor VCAg (both 6%) and factor VIII CAg, (6% and 4%). All members of this family had normal levels of factor VIIIR:Ag, protein C, antigen and protein C inhibitor. The normal levels of protein C and protein C inhibitor in the 2 affected family members indicate that the combined deficiency of factors V and VIII has nothing to do with protein C. This contrasts with previous reports that deficiency of protein C inhibitor is the cause of combined factor V and factor VIII deficiency. The probable mode of inheritance of this defect is discussed.
Rahim Adam
K A
KA
Al Rahman
F
F
el Seed
A
A
Karrar
Z A
ZA
Gader
A M
AM
D001779:Blood Coagulation Factors / Q000032:analysis*; D001780:Blood Coagulation Tests; D001798:Blood Proteins / Q000032:analysis*; D002648:Child; D005166:Factor V Deficiency / Q000097:blood* / Q000150:complications / Q000235:genetics; D005260:Female; D006023:Glycoproteins / Q000032:analysis*; D006467:Hemophilia A / Q000097:blood* / Q000150:complications / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D011486:Protein C; D018046:Protein C Inhibitor; D012016:Reference Values
D001779:Blood Coagulation Factors; D001798:Blood Proteins; D006023:Glycoproteins; D011486:Protein C; D018046:Protein C Inhibitor