Molecular study of the correlation between hemophilia and the thrombophilic risk factors in Dohuk province by using CVD strip assay

Abstract EN

Haemophilia A is an X-linked, recessively inherited bleeding disorder which results from deficiency of procoagulant factor VIII (FVIII).

Forty hemophilic patients were enrolled in the current study.

Blood sample were collected and DNA was extracted and subjected to multiplex PCR amplification using specific primers which resulted in bands containing all the suspected mutations associated with hemophilia; CVD Strip Assay was also used to differentiate the obtained mutations.

The results showed that out of the (40) hemophilic individuals, the higher incidence (55%) was for the MTHFR (A1298C) heterozygotic type of mutation while the lower incidence (5%) for a mutation recorded for factor V (G1691A, leiden), factor V (H1299R, R2), prothrombin (G20210A), and facto XIII (V34L).

For the Apo type mutation, B type hasn’t been detected while E type observed in all cases; A1/A2 mutation created the higher incidence with 25% on the other hand, A3/A3 hasn’t been detected and thus it represented 0% of all the Apo mutations.