Identification of a novel mutation in the factor VIII gene causing severe haemophilia A

• Published in: BMC hematology Vol. 18; no. 1; p. 17
• Main Authors: Nissen, S K, Laursen, A L, Poulsen, L H, Mogensen, T H
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 31-07-2018; BioMed Central
• Subjects: Care and treatment; Case Report; Gene mutation; Genetic aspects; Hematologic diseases; Risk factors; Whole exome sequencing; Haemophilia; Factor 8 gene mutation
• ISSN: 2052-1839; 2052-1839
• DOI: 10.1186/s12878-018-0113-4

Deficiency in coagulation factor VIII encoded by
results in the X-linked recessive bleeding disorder haemophilia A (HEMA). Here we describe the identification of a novel variant in the factor VIII gene,
, in an adult male patient with severe haemophilia A.
The patient was diagnosed in early childhood and subsequently co-infected with Hepatitis C and HIV acquired during early blood transfusion for haemophilia in the 1980ies. The identified
deletion, c.5411_5413delTCT, p.F1804del lies within a conserved part of the molecule, is predicted by bioinformatic software to be deleterious by the loss of Phenylalanine, and has not been previously described in any database.
This novel
deletion as a cause of haemophilia A did not result in generation of inhibitory antibodies to Factor VIII treatment and may have impact on (prenatal) diagnosis, genetic counselling, and treatment decisions in the affected family as well as in other families diagnosed with this
mutation. Finally, this novel mutation should be included in the panel of known genetic variants in
when searching for the genetic etiology in patients suspected of HEMA.