beta-Globin Gene Mutations in Pediatric Patients with beta-Thalassemia in the Region of Cukurova, Turkey

Guzelgul F., Seydel G. S. , AKSOY K.

HEMOGLOBIN, vol.44, no.4, pp.249-253, 2020 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 44 Issue: 4
  • Publication Date: 2020
  • Doi Number: 10.1080/03630269.2020.1792489
  • Title of Journal : HEMOGLOBIN
  • Page Numbers: pp.249-253


beta-Thalassemia (beta-thal) is one of the most common genetic disorders in Turkey. In this study, we investigated the mutations and frequency of beta-thal at the molecular level in pediatric beta-thal patients in the cukurova region. The beta-thal mutations of 52 cases were analyzed. An automated blood cell counter was used for hematological data. Cellulose acetate electrophoresis and high performance liquid chromatography (HPLC) methods were used for hemoglobin (Hb) typing. Amplification refractory mutation system (ARMS), restriction fragment length polymorphism (RFLP), gap-polymerase chain reaction (gap-PCR) and DNA sequencing analysis methods were used to determine genomic features. In this study, we found that 36 subjects carried homozygous mutations [IVS-I-110 (G>A) (HBB: c.93-21G>A) (58.3%), codon 8 (-AA)(HBB: c.25_26delAA) (5.6%), -30 (T>A) (HBB: c.-80T>A) (5.6%), IVS-I-6 (T>C) (HBB: c.92+6T>C) (5.6%) and IVS-II-1 (G>A) (HBB: c.315+1G>A) (5.6%)]. We found that 13 subjects carried compound heterozygosities for IVS-I-110/IVS-I-6 (15.4%) and IVS-I-110/frameshift codon (FSC) 44 (-C) (HBB: c.135delC) (15.4%). We observed that the Syrian subject also carried a compound heterozygosity for IVS-I-6/IVS-I-25 (-25 bp) (HBB: c.93_21del). We determined that the most frequently observed beta-thal mutation in the cukurova region, where various types of hemoglobinopathies have been observed, is the IVS-I-110 mutation. As the prevalence of the disease will affect the region where the immigrant population is dense, population screening and prenatal diagnosis (PND) should be increased and the public should be made aware of the consequences.