Hemophilia A Haplotypes in Southwestern Iran
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 southwestern Iran, includ...
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| Format: | Article |
| Language: | English |
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Bushehr University of Medical Sciences
2025-01-01
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| Series: | Iranian South Medical Journal |
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| Online Access: | http://ismj.bpums.ac.ir/article-1-2053-en.pdf |
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| author | Bizhen Keikhaei Dehdezi Ali Khodadadi Arta Farhadi Kia Faezeh Abbasi Saeed Bitraf Roya Salehi Kahyesh |
| author_facet | Bizhen Keikhaei Dehdezi Ali Khodadadi Arta Farhadi Kia Faezeh Abbasi Saeed Bitraf Roya Salehi Kahyesh |
| author_sort | Bizhen Keikhaei Dehdezi |
| collection | DOAJ |
| description | 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 southwestern Iran, including genetic predisposition, consanguineous marriages, and limited access to comprehensive healthcare services. This study aimed to investigate the common haplotypes of hemophilia 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 prenatal diagnosis. |
| format | Article |
| id | doaj-art-43cbea42ad434430825f9d8fe1765490 |
| institution | Kabale University |
| issn | 1735-4374 1735-6954 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Bushehr University of Medical Sciences |
| record_format | Article |
| series | Iranian South Medical Journal |
| spelling | doaj-art-43cbea42ad434430825f9d8fe17654902025-01-29T11:51:53ZengBushehr University of Medical SciencesIranian South Medical Journal1735-43741735-69542025-01-01273189196Hemophilia A Haplotypes in Southwestern IranBizhen Keikhaei Dehdezi0Ali Khodadadi1Arta Farhadi Kia2Faezeh Abbasi3Saeed Bitraf4Roya Salehi Kahyesh5 Thalassemia & Hemoglobinopathy Research center, Health Research Institute, Ahvaz Jundishapur Uni-versity Department of General Medicine, School of Medicine, Izmir University of Economics, Izmir, Türkiye Thalassemia & Hemoglobinopathy Research center, Health Research Institute, Ahvaz Jundishapur Uni-versity of Medical Sciences, Ahvaz, Iran Thalassemia & Hemoglobinopathy Research center, Health Research Institute, Ahvaz Jundishapur Uni-versity of Medical Sciences, Ahvaz, Iran Thalassemia & Hemoglobinopathy Research center, Health Research Institute, Ahvaz Jundishapur Uni-versity of Medical Sciences, Ahvaz, Iran 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 southwestern Iran, including genetic predisposition, consanguineous marriages, and limited access to comprehensive healthcare services. This study aimed to investigate the common haplotypes of hemophilia 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 prenatal diagnosis.http://ismj.bpums.ac.ir/article-1-2053-en.pdfhemophilia ahaplotypesouthwesterniran. |
| spellingShingle | Bizhen Keikhaei Dehdezi Ali Khodadadi Arta Farhadi Kia Faezeh Abbasi Saeed Bitraf Roya Salehi Kahyesh Hemophilia A Haplotypes in Southwestern Iran Iranian South Medical Journal hemophilia a haplotype southwestern iran. |
| title | Hemophilia A Haplotypes in Southwestern Iran |
| title_full | Hemophilia A Haplotypes in Southwestern Iran |
| title_fullStr | Hemophilia A Haplotypes in Southwestern Iran |
| title_full_unstemmed | Hemophilia A Haplotypes in Southwestern Iran |
| title_short | Hemophilia A Haplotypes in Southwestern Iran |
| title_sort | hemophilia a haplotypes in southwestern iran |
| topic | hemophilia a haplotype southwestern iran. |
| url | http://ismj.bpums.ac.ir/article-1-2053-en.pdf |
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