Beta-globin Gene Mutations in Turkish Children with Beta-Thalassemia: Results from a Single Center Study
Ali Fettah1, Cengiz Bayram, Nese Yarali
1Ankara Children's Hematology and Oncology Research Hospital, Department of Hematology. Ankara, Turkey.
Insights
This study evaluated beta-globin gene mutations in 106 pediatric beta-thalassemia patients in Turkey. The IVS I.110 (G>A) mutation was most frequent, highlighting its significance in the country’s genetic landscape.
Area of Science:
- Medical Genetics
- Hematology
- Molecular Biology
Background:
- Beta-thalassemia is a prevalent genetic disorder in Turkey.
- Understanding beta-globin gene mutations is crucial for managing the disease's phenotypic severity.
Purpose of the Study:
- To analyze beta-globin chain mutations in pediatric beta-thalassemia patients in Turkey.
- To correlate identified mutations with the clinical severity of beta-thalassemia.
Main Methods:
- Retrospective analysis of 106 pediatric patients diagnosed with beta-thalassemia.
- DNA analysis was performed to identify beta-globin gene mutations.
- Patients were classified into beta-thalassemia major or intermedia based on clinical criteria.
Main Results:
- 18 different beta-globin gene mutations were detected across 212 alleles.
- The most common mutation was IVS I.110 (G>A), accounting for 35.3% of mutations.
- Homozygous mutations were present in 80.2% of patients, with IVS I.110 (G>A) being the most frequent.
Conclusions:
- The mutation profile observed in this tertiary referral center reflects the broader national distribution in Turkey.
- IVS I.110 (G>A) is a significant mutation contributing to beta-thalassemia in the Turkish population.
Introduction:
The beta thalassemias are common genetic disorders in Turkey and in this retrospective study our aim was to evaluate β-globin chain mutations and the phenotypic severity of β-thalassemia patients followed-up in our hospital, a tertiary center which serves patients from all regions of Turkey.
Materials And Methods:
106 pediatric patients were analysed for β-globin gene mutations by using DNA analysis. Patients were classified as having β-thalassemia major or β-thalassemia intermedia based on age at diagnosis, transfusion frequency and lowest hemoglobin concentration in between transfusions.
Results:
There were 106 patients (52.8% female and 47.2% male) with a mean age of 11.2±5 years (1.6 - 22.3 years). Eighty-four (79.2%) patients had β-thalassemia major, whereas the remaining 22 patients (20.8%) were identified as having β-thalassemia intermedia. Overall, 18 different mutations were detected on 212 alleles. The most frequently encountered mutation was IVS I.110 (G>A) (35.3%), followed by Codon 8 del-AA (10.4%), IVS II.1 (G>A) (8%), IVS I.1 (G>A) (7.5%), Codon 39 (C>T) (7.1%) and Codon 5 (-CT) (6.6%), which made up 79.4% of observed mutations. According to present results, IVS I.110 (G>AA) was the most frequent mutation observed in this study, as in other results from Turkey. Evaluation of β-thalassemia mutations in 106 patients with 212 alleles, revealed the presence of homozygous mutation in 85 patients (80.2%) and compound heterozygous mutation in 21 patients (19.8%). The mutations detected in patients with homozygous mutation were IVS I.110 (G>A) (38.8%), Codon 8 del -AA (11.8%), IVS II.1 (G>A) (8.2%) and IVS I.1 (G>A) (8.2%). Observed mutations in the compound heterozygotes were Codon 39 (C>T)/Codon 41-42 (-CTTT) (14.3%), IVS I.110 (G>A)/Codon 39(C>T) (14.3%), IVS I.110 (G>A)/Codon 44(-C) (14.3%), and IVS II.745 (C>G)/5'UTR + 22 (G>A) (9.5%).
Conclusion:
Our hospital is a tertiary referral center that provides care to patients from all over the country, and thus the distribution of mutations observed in the current study is significant in term of representing that of the country as a whole.
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