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

ABSTRACT:

Background

Deficiency in coagulation factor VIII encoded by F8 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, F8, in an adult male patient with severe haemophilia A.

Case presentation

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 F8 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.

Conclusion

This novel F8 deletion as a cau

SUBMITTER: Nissen SK 

PROVIDER: S-EPMC6069878 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature