Hemophilia A Haplotypes in Southwestern Iran

Abstract

Background: Hemophilia A has received attention in Iran due to its significant patient population and number of complications and comprises a major healthcare challenge in the southwestern region. Several factors contribute to the prevalence and incidence of hemophilia A in southwest- ern Iran, including genetic predisposition, consanguineous marriages, and limited access to com- prehensive healthcare services. This study aimed to investigate the common haplotypes of he- mophilia A in this region of our country. Materials and Methods: Medical record data of patients with hemophilia A over 14 years from 2009 to 2023 were entered into a questionnaire, including age, gender, form or severity of the disease, the most common bleeding site, survival rate, cause of death, place of residence, blood type, ethnicity, family relationship, and mutation type. The severity of the disease was determined based on the results of the patient's factor VIII levels, and the mutation type was determined based on molecular testing and sequencing (mutation determination by direct method or gene linkage study, including VNTR). Results: Of the 40 patients in this study, three were female (7.5%), and 37 were male (92.5%). The most common disease form was severe. In 39 patients, the most common bleeding site was in the joints, and only one case had bleeding in the gastrointestinal tract. A high mutation diversity was observed in gene mutations and inversions; the most reported case was intron-22 gene inversion. Conclusion: Identifying genetic mutations in hemophilia disease helps promote the clinical care available for these patients. Genetic testing is also indicated for carrier identification and prena- tal diagnosis. © 2025 Bushehr University of Medical Sciences. All rights reserved.