Wykrywanie mutacji inwersyjnych (INV22 oraz INV1) w genie F8 metodą IS-PCR u polskich chorych na ciężką hemofilię A

Abstract Hemophilia A is a genetically determined bleeding disorder, caused by deficiency, lack or dysfunction of plasma coagulation factor VIII. Approximately in 45–50% of severe haemophilia A patients excessive bleeding tendency is caused by the occurrence of inversion mutation in the intron 22 (INV22) F8 gene and in about 1–5% – inversion mutation in the intron 1 (INV1). In this paper we present the results of the study aimed to assess the prevalence of INV22 and INV1 in severe HA patients in Poland and to estimate the incidence of FVIII inhibitor in patients with INV1 or INV22 mutations. Moreover, the role of genetic testing in the diagnosis of hemophilia A as well as molecular method used in the current study to detect the inversion mutations in the F8 gene was discussed.