Beta-thalassemia mutation types and the relationship with the demographic factors in Sanliurfa, Turkey

Introduction: Beta-thalassemia is an autosomal recessive disease that occurs as a result of disorder in the (β-globin chains synthesis), and gold standard method for diagnosis genetic mutation analysis. It important to know distribution mutations according regions races. The aim this study document beta-globin gene beta-thalassemia major intermedia patients who were followed treated Sanliurfa province, examine relationships between these by defining them gender, nationality, consanguineous marriage, history siblings blood type.Methods: files 272 diagnosed with up Pediatric Hematology-Oncology outpatient clinic Training Research Hospital August 2016 2017 retrospectively reviewed analyzes documented. Coding exons exon-intron junction beta globin-HBB amplified PCR then DNA sequencing was performed. Gender, sibling type information recorded.Results: Out patients, 94.1% thalassemia others intermedia. Approximately one third (30.1%) foreign nationals. A total 27 different detected. most common IVS-I-110 c.93-21 (G> A) (23.1%), which IVS-I-1 c.92 + 1 (15.8%) Codon 39 c.118 (C> T) (11.5%). One hundred forty-two individuals (52.2%) had no history, while 103 (37.9%) (9.9%) two disorder. First-degree, second degree marriages present 42.6% (n = 116), 8.1% 22), 11% 30) parents, respectively.Conclusions: hematological condition Sanliurfa. one-third apply are Correct identification will guide counseling preventing prenatal disease. This data can contribute national prevention program Turkey.