Genotyping of intron 1 and 22 inversion of factor VIII gene using IS-PCR in Kurdish patients of Iraq

Since Hemophilia A (HA) is an endemic hereditary disease in the Middle East without a complete cure, determination of factor VIII mutations can lead to genetic diagnosis of HA in the prenatal stage. Several studies indicated that inversions of intron 22 and intron 1 (Inv22 and Inv1) in factor VIII gene are responsible for at least half of severe hemophilia A cases. In the current study, an inverse shifting-polymerase chain reaction (IS-PCR) approach was used for the molecular diagnosis of Inv22 and Inv1 in 28 Kurdish patients. Then, the coding region of the factor VIII gene was sequenced. 11 out of 28 patients had Inv22 and 2 missense, one nonsense, and deletion were found among all patients.