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748 Detection of Intron 22 Gene Inversion (Common Mutation) in Severe Hemophilia a in Khouzestan Province
  1. A Ghasemi,
  2. B Keikhaei,
  3. K Zandian,
  4. H Galedari
  1. Pediatric Hematology-Oncology, Mashhad University of Medical Sciences, Mashhad, Iran

Abstract

Introduction Hemophilia A, is the most common severe coagulation disorder with an incidence of 1 in 5000 males. The most common genetic alteration is a gene inversion, which occurs in approximately 45% of patients with severe hemophilia A.

The goal of the study was to assess the presence of the intron22 inversion in patients with severe hemophilia A from Khozestan province.

Materials Twenty-five patients with severe hemophilia A and 15 mothers of these patients participated in the study patients were referred from the thalassemia service of Shafa Hospital to detect the presence of intron 22 inversion in the patients with severe hemophilia A.

Results Patients were aged 2–30 years. Six(24%) patients were diagnosed during the neonatal period, 11(44%) between 1–12 months, 5(20%) between 1–2 years, 2(8%) between 2–3 years and 1(4%) at 3.5 years. In our patients, 1–8 joints were affected. The mean joints involvements were 3.3±1.8. Of the 25 patients with severe hemophilia A, 7 patients had the intron 22 inversion. Seven of 15 mothers also presented with the intron 22 inversion. In all 7 cases, mother and son had the same intron 22 inversion, no new mutation was found in our patients.

Conclusion The prevalence of the intron 22 inversion in hemophilic patients is 28%. This prevalence is lower than that reported Worldwide. Based on this study and other reports, we recommended that the detection of intron 22 inversion is performed as a genetic screening test in hemophilic patients.

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