Effects of Genetic Modifiers on Clinics of Beta Thalassemia Major and Intermedia
| Autor: | Yöntem Yaman, Özgür Cartı, Gulcihan Özek, Huseyin Onay, Berna Atabay, Canan Vergin |
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| Přispěvatelé: | Ege Üniversitesi |
| Rok vydání: | 2020 |
| Předmět: | |
| Zdroj: | Güncel Pediatri. 18:237-250 |
| ISSN: | 1308-6308 1304-9054 |
| DOI: | 10.4274/jcp.2020.0021 |
| Popis: | INTRODUCTION: Main purpose of this study is to evaluate the effects of some genetic modifiers; especially by correcting the imbalance between alpha/non alpha chains on clinical severity of Turkish beta Thalassemia patients. MATERIALS and METHODS: Eighty-four patients diagnosed as beta Thalassemia Major (TM) or beta Thalassemia Intermedia (TI) were recruited from pediatric hematology clinics of Dr. Behget Uz Children's Hospital and Tepecik State Hospital. The clinical and demographic characteristics (including beta Thalassemia mutations) of patients were retrospectively reviewed from patients' records. Genetic analysis of patients for Xmn1 Polymorphism and a thalassemia mutations were done at Aegean University, Faculty of Medicine Department of Medical Genetics. RESULTS: Xmnn1 (+/+) genotype, Xmn1 (+/-) genotype, a thalassemia gene deletion, mild beta+ alleles were found in 10,1,5,6 of TI patients respectively. One or more positive genetic modifiers were found in 21 patients out of 26 TI (80,8%) patients. Xmnn1 (+/+) genotype, Xmn1 (+/-) genotype, a thalassemia gene deletion, mild beta+ alleles were found in 1, 3, 4,5 of TM patients respectively. One or more positive genetic modifiers were found in 11 patients out of 58 TM (18,9%) patients. in the study, all TI patients having beta 0 mutations had Xmn1 (+/+) genotype. CONCLUSIONS: This study showed that in cases of TI with beta+ mutations most common genetic modifier factors are the type of mutation and presence of alpha thalassemia, while in cases of beta 0 mutations the most common genetic modifier is the presence of Xmn1 (+/+) genotype. |
| Databáze: | OpenAIRE |
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