Murat SÖKER, Nuriye METE, Cemal POLAT

Diyarbakır İlinde Beta-Talasemi Majörlü Hastalar ve Ebeveynlerinde Mutasyon Analizi

Amaç: Bu çalışmada beta-Talasemi Majör (BTM) tanısı almış hastalar ve ebeveynlerinde; DNA dizi analiziyöntemiyle tanısının kesinleştirilmesi, tedavisine katkıda bulunulması ve mutasyon dağılımının tespitiamaçlanmıştır. Yöntemler: Çalışmaya BTM’li hastalar (n=30) ve ebeveynleri (n=60) olmak üzere toplam 90 kişi dâhil edilmiştir.Tüm analizler için hastalar ve ebeveynlerinin her birinden iki adet EDTA ihtiva eden tüplere kan numunesialınmıştır. Sırasıyla tam kan sayımı, Hb varyant ve mutasyon analizi çalışılmıştır. Bulgular: IVS-I-110 (G->A) %46.67, codon 8 (-AA) %16.67, IVS-II-1 (G->A) %11.67, codon 44 (-C) %10.00, IVS-II 745 (C->G) %5.00, IVS-I-1 (G->A) %3.33, IVS-I-5 (G->T) %3.33 ve -30 (T->A) %3.33 olmak üzere 8 çeşit mutasyontespit edildi. Düzenli olarak transfüzyon tedavisi alan BTM’li hastalarda Hb konsantrasyonu 9.2±1.32 g/dL ve Hbvaryant düzeyi HbA %81.58±11.05, HbF %10.44±11.54 olarak tespit edilmiştir. Ebeveynlerde ise tipik hemogramsayımı ve Hb varyant düzeyleri görüldü.Sonuç: Çalışmamızda mutasyon açısından Türkiye geneline benzer bir dağılım tespit edildi. Çalışılan tüm kişilerdemutasyonlar tasnif edildi. Bu çalışma DNA dizi analizi yönteminin kullanımına bağlı olarak saptanamayanmutasyonların belirlenme oranını artırmıştır. Buna bağlı olarak yüksek kapasiteli çok merkezli koordine birçalışma ile bu mutasyonların ve bunların hastalığa etkisinin belirlenmesini geliştirecektir.

Mutation Analysis of Beta-Thalassemia Major Patients and TheirParents in Diyarbakir Province, Turkey

Objectives: In this study, beta-Thalassemia Major (BTM) diagnosed patients and their parents were subjected to DNA sequencing in order to confirm their diagnosis, improve their treatment and determine the mutation distributions of both patients and their parents.Methods: A total of 90 people, BTM patients (n=30) and their parents (n=60), were included in the study. For all analyses, two blood samples were taken into EDTA-containing tubes from each of the patients and each of their parents. Complete blood count, hb variant and mutation analysis were studied, respectively. Results: 8 types of mutation were determined: IVS-I-110 (G->A) 46.67%, codon 8 (-AA) 16.67%, IVS-II-1 (G->A) 11.67%, codon 44 (-C) 10.00%, IVS-II-745 (C->G) 5.00%, IVS-I-1 (G->A) 3.33%, IVS-I-5 (G->T) 3.33% and -30 (T->A) 3.33%. Hb concentrations of 9.2 ± 1.32 g/dL and Hb variant levels of HbA 81.58% ± 11.05, HbF 10.44% ± 11.54 were found in patients with BTM who received transfusion therapy regularly. Typical hemogram count and Hbvariants levels were seen in parents.Conclusion: In our study, a similar distribution was identified throughout Turkey in terms of mutation. Mutations were classified in all the studied people. This study increased the detection percentage of undetermined mutations by the use of DNA sequencing. Thus a multi-centric coordinated study with high capacity will improve detecting these mutations and their effects on the disease.

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