Study of Symptom and Genotyping of Kurdish Patients with Severe Hemophilia A



Hemophilia A (HA) is an endemic hereditary disease in Middle East without complete cure, determination of mutations occurring in the factor VIII can help pinpoint the relationship between phenotype and genotype of patients. Therefore, the aim of this study was to determine the phenotype and genetic characteristics of family with severe hemophilia A in west part of Iran with contagious marriage. Methods and Materials: In the current study, an inverse shifting-polymerase chain reaction (IS-PCR) approach was used for molecular diagnosis of Inv22 and Inv1. Then, the coding region of factor VIII gene was sequenced. Results: A total of 28 severe hemophilia A patients were included in this study. 11 patients had Inv22 and 2 missense, three silence and four frameshift were found among all patients. Conclusion: The mutations observed among hemophilia A Kurdish patients are similar with what was recorded in other races and studies. No new mutation was discovered in our study.