Seyed Hamid Mosavi , Seyed Alireza Mesbah Namin
Introduction: Hemophilia A (HA) is one of the most deleterious X-linked bleeding disorders in male patients. Early and rapid detection could provide management strategies for this disease. This study aims to improve the classic method for detection of important intron 22 inversion mutations (INV22). Materials and Methods: Whole blood samples were taken from 21 male children with a history of severe HA, referred to the Iranian comprehensive hemophilia care center. Two groups were involved for detection of INV22 and two methods were examined in a double-blind manner. The first method used a classical method, inverse PCR, and the second method was Real-time inverse PCR. Results: Results showed that both methods could separately detect the INV22 in 11 out of 21 patients with severe HA (52%) in the same accuracy, but with this difference that only one day was needed for detecting of INV22 by Real-time inverse PCR and on other hand 3 days were needed for the classical methods. Concusion: Because of the medical importance of early detection or prenatal/postnatal diagnosis of this disease, this study recommends the Real-time inverse PCR technique for the rapid detection of this mutation in well-equipped genetic laboratories everywhere.
Key words: Hemophilia A, Factor VIII, Intron 22 Inversion, Real-time inverse PCR
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