Genetik değiştiricilerin beta talasemi major ve intermedia kliniğine etkileri
Loading...
Files
Date
2020-06-24
Authors
Yaman, Yöntem
Cartı, Özgür
Özek, Gülcihan
Onay, Hüseyin
Atabay, Berna
Vergin, Canan
Journal Title
Journal ISSN
Volume Title
Publisher
Bursa Uludağ Üniversitesi
Abstract
Türk toplumunda β Talasemili hastalarda klinik iyileştirici; temel olarak α/α olmayan zincirler arasındaki dengesizliği düzelterek kliniği iyileştiren genetik faktörleri değerlendirmek. Çalışmaya Dr. Behçet Uz Çocuk Hastalıkları ve Cerrahisi Eğitim Araştırma Hastanesi ve Tepecik Eğitim Araştırma Hastanesi çocuk hematoloji kliniğinde β-Talasemi Major (TM) ve β-Talasemi Intermedia (TI) tanıları ile takip edilen 84 hasta alındı. Hastaların klinik ve demografik özellikleri (β talasemi mutasyonları dahil) retrospektif olarak dosyalarından tarandı. Xmn1 polimorfizmi için tüm, α talasemi mutasyonu için sonucu olmayan hastaların testleri Ege Üniversitesi Tıp Fakültesi Tıbbi Genetik Anabilim Dalında yapıldı. Yirmi altı TI hastasında Xmn1(+/+), Xmn1(+/-) polimorfizmleri, α talasemi mutasyonları ve ılımlı β+ aleller sırasıyla 10, 1, 5, 6 olarak saptandı. Talasemi intermedialı 26 hastadan 21’i (%80,8) bir veya daha fazla iyileştirici genetik faktöre sahipti. Elli sekiz TM hastasında ise Xmn1(+/+), Xmn1(+/-) polimorfizmleri, α talasemi mutasyonları ve ılımlı β+ aleller sırasıyla 1, 3, 4, 5 olarak saptandı. Talasemi Major olarak takip edilen 58 hastadan 11’i ( %18,9) ‘u 1 veya daha fazla genetik iyileştirici genetik faktöre sahipti. Çalışmada homozigot β0 mutasyonu olup TI kliniğiyle takip edilen bütün vakalarda hastaların Xmn1 (+/+) polimorfizmine sahip olduğu görüldü. Bu çalışma β0 mutasyonu bulunan talasemilerde en önemli genetik iyileştirici faktörün Xmn1 polimorfizmi olduğunu, β+ mutasyon durumunda ise en önemli genetik iyileştirici faktörlerin β mutasyon tipi ve α mutasyonu olduğunu göstermektedir.
Main purpose of this study is to evaluate the effects of some genetic modifiers; especially by correcting the imbalance between α/non α chains on clinical severity of Turkish β Thalassemia patients. Eighty-four patients diagnosed as β Thalassemia Major (TM) or β Thalassemia Intermedia (TI) were recruited from pediatric hematology clinics of Dr. Behçet Uz Children’s Hospital and Tepecik State Hospital. The clinical and demographic characteristics (including β Thalassemia mutations) of patients were retrospectively reviewed from patients’ records. Genetic analysis of patients for Xmn1 Polymorphism and α thalassemia mutations were done at Aegean University, Faculty of Medicine Department of Medical Genetics. Xmnn1 (+/+) genotype, Xmn1 (+/-) genotype, α thalassemia gene deletion, mild β+ 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, α thalassemia gene deletion, mild β+ 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 β0 mutations had Xmn1 (+/+) genotype. This study showed that in cases of TI with β+ mutations most common genetic modifier factors are the type of mutation and presence of α thalassemia, while in cases of β0 mutations the most common genetic modifier is the presence of Xmn1 (+/+) genotype.
Main purpose of this study is to evaluate the effects of some genetic modifiers; especially by correcting the imbalance between α/non α chains on clinical severity of Turkish β Thalassemia patients. Eighty-four patients diagnosed as β Thalassemia Major (TM) or β Thalassemia Intermedia (TI) were recruited from pediatric hematology clinics of Dr. Behçet Uz Children’s Hospital and Tepecik State Hospital. The clinical and demographic characteristics (including β Thalassemia mutations) of patients were retrospectively reviewed from patients’ records. Genetic analysis of patients for Xmn1 Polymorphism and α thalassemia mutations were done at Aegean University, Faculty of Medicine Department of Medical Genetics. Xmnn1 (+/+) genotype, Xmn1 (+/-) genotype, α thalassemia gene deletion, mild β+ 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, α thalassemia gene deletion, mild β+ 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 β0 mutations had Xmn1 (+/+) genotype. This study showed that in cases of TI with β+ mutations most common genetic modifier factors are the type of mutation and presence of α thalassemia, while in cases of β0 mutations the most common genetic modifier is the presence of Xmn1 (+/+) genotype.
Description
Keywords
Beta talasemi major, Beta thalassemia major, Beta talasemi intermedia, Beta thalassemia intermedia, Xmnn1 polimorfizmi, Xmn1 polymorphism, α, Thalassemia mutation, β0 thalassemia mutation, Talasemi mutasyonu, β0 talasemi mutasyonu
Citation
Yaman, Y. (2020). "Genetik değiştiricilerin beta talasemi major ve intermedia kliniğine etkileri". Güncel Pediatri Dergisi, 18(2),237-251.