Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A

• Published in: British journal of haematology Vol. 119; no. 2; pp. 390 - 392
• Main Authors: Mazurier, Claudine, Parquet‐Gernez, Armelle, Gaucher, Christine, Lavergne, Jean‐Maurice, Goudemand, Jenny
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Science Ltd 01.11.2002; Blackwell; Blackwell Publishing Ltd
• Subjects: Adult; Biological and medical sciences; Dosage Compensation, Genetic; factor VIII; Factor VIII - metabolism; Female; haemophilia A; Hematologic and hematopoietic diseases; Hematology; Hemophilia A - genetics; Heterozygote; Humans; Male; Medical sciences; Mutation, Missense; Pedigree; Platelet diseases and coagulopathies; Protein Binding; von Willebrand disease; von Willebrand Diseases - genetics; von Willebrand factor; von Willebrand Factor - genetics; von Willebrand Factor - metabolism; Human; Family study; haemophilia A. von Willebrand disease; Willebrand disease; Factor VIII; Clinical form; Hemopathy; factor VIII. von Willebrand factor; Hemophilia A; Genetic disease; Case study; Symptomatology; Female; Willebrand factor; Coagulation factor; Coagulopathy
• ISSN: 0007-1048; 1365-2141
• DOI: 10.1046/j.1365-2141.2002.03819.x

In this study, we reinvestigated a 20‐year‐old woman, the first cousin of two brothers with severe haemophilia A. This patient was previously assumed to be a carrier of haemophilia A due to her FVIII deficiency. We identified a novel FVIII gene mutation in the family and demonstrated that the FVIII deficiency in this female patient did not result from this gene mutation, but was linked to molecular defects in the von Willebrand factor gene.