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The Spectrum of β-Thalassemia Mutations in Batman, South-Eastern Turkey

Year 2020, , 828 - 835, 30.12.2020

Sedat Yilmaz

https://doi.org/10.5798/dicletip.850314

Abstract

References

  • 1. Clarke GM, Higgins TN. Laboratory Investigation of Hemoglobinopathies and Thalassemias: Review and Update. Clin Chem 2000; 46: 1284-90.

The Spectrum of β-Thalassemia Mutations in Batman, South-Eastern Turkey

Year 2020, , 828 - 835, 30.12.2020

Sedat Yilmaz

https://doi.org/10.5798/dicletip.850314

Abstract

Objective: In this study, we aimed to determine the mutation types and the frequencies of these mutations in the patients with thalassemia in Batman province and to provide the use of these findings in genetic counselling.
Methods: The study included 46 patients (27 male and 19 female) with a mean age of 9.5 ± 3.6 years (range: 3-16 years). In this study, mutations were determined by sequence analysis method.
Results: 7 different mutations were detected in patients. IVS-I-110 (G>A) (56.25%), codon 44 (-C) del (16.25%), IVS-I-1 (G>A) (12.5%), IVS- II-1 (G>A) (6.25%) were the most common and they were found to constitute 91.25% of the cases. As in other regions of Turkey, IVI-1-110 (G >A) was the most frequent mutation detected. In this study; 28 mutant alleles including IVS-I-110 (G>A)/IVS-I-1 (G> A) (4), IVS-I-110 (G>A)/IVS-II-1 (G> A) (4), codon 8 (-AA) del/IVS-1-110 (G>A) (1), codon 8 (-AA) del/ codon 44 (-C)del (1), codon 15 (GG-GA)/codon 44 (-C) del (1), codon 44 (-C) del/IVS-I-1 (G> A) (1), codon 44 (-C) del/ IVS-II-1 (G> A) (1), codon 44 (-C)del/IVS-I-110 (G>A) (1) were found to have formed a compound heterozygous mutation. Among the β-thalassemia patients in Batman province, 29 (56.25%) were determined to have β⁺ mutation, and 26 (43.75%) had β° mutation.
Conclusion: It is important that we, in our study, discovered IVS-II-1 (G>A) mutation compounded with heterozygous in five patients and codon 8 (-AA) del mutation as homozygous in one patient who presented a clinical manifestation of thalassemia intermedia despite having homozygous beta thalassemia. These results will contribute to genetic counseling and prenatal diagnosis.

Keywords

Anemia Hemoglobin Disorders Mutation

References

  • 1. Clarke GM, Higgins TN. Laboratory Investigation of Hemoglobinopathies and Thalassemias: Review and Update. Clin Chem 2000; 46: 1284-90.
There are 1 citations in total.

Details

Primary Language English
Subjects Health Care Administration
Journal Section Original Articles
Authors

Sedat Yilmaz This is me

Publication Date December 30, 2020
Submission Date April 17, 2020
Published in Issue Year 2020

Cite

APA Yilmaz, S. (2020). The Spectrum of β-Thalassemia Mutations in Batman, South-Eastern Turkey. Dicle Tıp Dergisi, 47(4), 828-835. https://doi.org/10.5798/dicletip.850314
AMA Yilmaz S. The Spectrum of β-Thalassemia Mutations in Batman, South-Eastern Turkey. diclemedj. December 2020;47(4):828-835. doi:10.5798/dicletip.850314
Chicago Yilmaz, Sedat. “The Spectrum of β-Thalassemia Mutations in Batman, South-Eastern Turkey”. Dicle Tıp Dergisi 47, no. 4 (December 2020): 828-35. https://doi.org/10.5798/dicletip.850314.
EndNote Yilmaz S (December 1, 2020) The Spectrum of β-Thalassemia Mutations in Batman, South-Eastern Turkey. Dicle Tıp Dergisi 47 4 828–835.
IEEE S. Yilmaz, “The Spectrum of β-Thalassemia Mutations in Batman, South-Eastern Turkey”, diclemedj, vol. 47, no. 4, pp. 828–835, 2020, doi: 10.5798/dicletip.850314.
ISNAD Yilmaz, Sedat. “The Spectrum of β-Thalassemia Mutations in Batman, South-Eastern Turkey”. Dicle Tıp Dergisi 47/4 (December 2020), 828-835. https://doi.org/10.5798/dicletip.850314.
JAMA Yilmaz S. The Spectrum of β-Thalassemia Mutations in Batman, South-Eastern Turkey. diclemedj. 2020;47:828–835.
MLA Yilmaz, Sedat. “The Spectrum of β-Thalassemia Mutations in Batman, South-Eastern Turkey”. Dicle Tıp Dergisi, vol. 47, no. 4, 2020, pp. 828-35, doi:10.5798/dicletip.850314.
Vancouver Yilmaz S. The Spectrum of β-Thalassemia Mutations in Batman, South-Eastern Turkey. diclemedj. 2020;47(4):828-35.