Objective: The aim of our study was to find the frequency of Intron 22 inversion (Inv22) in severe hemophilia A (HA) patients and to evaluate the association between Inv22 and FVIII inhibitor formation.Method: Data analysis was carried out on IBM SPSS Statistics Version 23.00 (IBM Corp, Armonk, NY). Descriptive statistics were applied to measure the frequencies, percentages, and mean +/- SD of the clinical and general history of HA patients, including age, family history, inhibitor status, intron22 inversion, and FVIII levels. Chi-square was applied to evaluate the association between Inv22 and F8 inhibitor formation.Results: A total of 62 HA patients were enrolled in the study with mean +/- SD age of (14.39 +/- 13.2) years. A family history of HA was observed in 36 (58.1%) patients. Out of 62 patients, 28(45.2%) were reported as Inv22 positive while inhibitor status was observed as positive in three (4.83%) patients. However, an insignificant association was observed between the inhibitor and Inv22 positive patients with a p-value=0.443.Conclusion: In our study, Inv22 was found to be the major cause of severe HA in our patients, i.e., 45.1%. However, no significant relation was computed between Inv22 and inhibitor formation.
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Seoul Natl Univ, Grad Sch Int Agr Technol, 1447 Pyeongchang Ro, Daehwa 25354, Pyeongchang, South Korea
Seoul Natl Univ, Inst Green BioSci & Technol, 1447 Pyeongchang Ro, Daehwa 25354, Pyeongchang, South KoreaSeoul Natl Univ, Grad Sch Int Agr Technol, 1447 Pyeongchang Ro, Daehwa 25354, Pyeongchang, South Korea
Han, Jeong Pil
Song, Dong Woo
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Toolgen Inc, Seoul 08501, South KoreaSeoul Natl Univ, Grad Sch Int Agr Technol, 1447 Pyeongchang Ro, Daehwa 25354, Pyeongchang, South Korea
Song, Dong Woo
Lee, Jeong Hyeon
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Seoul Natl Univ, Grad Sch Int Agr Technol, 1447 Pyeongchang Ro, Daehwa 25354, Pyeongchang, South Korea
Seoul Natl Univ, Inst Green BioSci & Technol, 1447 Pyeongchang Ro, Daehwa 25354, Pyeongchang, South KoreaSeoul Natl Univ, Grad Sch Int Agr Technol, 1447 Pyeongchang Ro, Daehwa 25354, Pyeongchang, South Korea
Lee, Jeong Hyeon
Lee, Geon Seong
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Seoul Natl Univ, Grad Sch Int Agr Technol, 1447 Pyeongchang Ro, Daehwa 25354, Pyeongchang, South Korea
Seoul Natl Univ, Inst Green BioSci & Technol, 1447 Pyeongchang Ro, Daehwa 25354, Pyeongchang, South KoreaSeoul Natl Univ, Grad Sch Int Agr Technol, 1447 Pyeongchang Ro, Daehwa 25354, Pyeongchang, South Korea
Lee, Geon Seong
Yeom, Su Cheong
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Seoul Natl Univ, Grad Sch Int Agr Technol, 1447 Pyeongchang Ro, Daehwa 25354, Pyeongchang, South Korea
Seoul Natl Univ, Inst Green BioSci & Technol, 1447 Pyeongchang Ro, Daehwa 25354, Pyeongchang, South Korea
Seoul Natl Univ, Dept Agr Biotechnol, Seoul 08826, South KoreaSeoul Natl Univ, Grad Sch Int Agr Technol, 1447 Pyeongchang Ro, Daehwa 25354, Pyeongchang, South Korea
Parvinder KumerMohammed IdrisVikas DograKRadha ManiKulbhushan Singh JamwalWahied Khawar BalwanTRRainaGRChandakSubash GuptaDepartment of ZoologyHuman Genetics Research and Counselling Centre University of JammuGovtMedical CollegeIndiaCentre for Cellular and Molecular BiologyIndia
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Parvinder KumerMohammed IdrisVikas DograKRadha ManiKulbhushan Singh JamwalWahied Khawar BalwanTRRainaGRChandakSubash GuptaDepartment of ZoologyHuman Genetics Research and Counselling Centre University of JammuGovtMedical CollegeIndiaCentre for Cellular and Molecular BiologyIndia