May 2014

Factor VIII genetic mutations and protein alterations in hemophilia A: A review

Hemophilia A represents a severe most common inherited hemorrhagic disorder caused by heterogeneous mutations, which lead to dysfunctional factor VIII protein. Besides the inversion 22 and intron 1 inversion, the mutations may describe 627 missense and 142 nonsense unique mutations. Changes in the protein sequence induce structural or functional impairment. This study aimed to review mutation in different domains and...

Author(s): Nuzhat Jahan Faridi, Praveen Kumar, Nuzhat Husain and Mohammad Imran