Combined factor VII and factor VIII deficiency due to a casual association of heterozygosis for factor VII deficiency and hemophilia A.
A patient with combined factor VII and factor VIII deficiency is discussed. The propositus is a 21-year-old male who presented a mild bleeding tendency. The patient appears to be a hemophilia and at the same time heterozygote for factor VII deficiency. This conclusion is based on the fact that heterozygosis for factor VII deficiency was present in the father and in other relatives of the paternal side. On the contrary, no factor VII deficiency was present in the maternal side of the family. However, the maternal grandfather was known to have been a bleeder and the propositus' mother, his sister and his aunt had low-normal factor VIII levels and were probably hemophilia A carriers. This type of combined factor VII and factor VIII deficiency appears to be due to the casual association of two independently segregating defects.
D000328:Adult; D001772:Blood Cell Count; D001780:Blood Coagulation Tests; D005168:Factor VII Deficiency / Q000235:genetics*; D005340:Fibrinogen / Q000032:analysis; D006467:Hemophilia A / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D010973:Platelet Adhesiveness; D010974:Platelet Aggregation
D005340:Fibrinogen