Alpha Thalassemia in Istanbul: Distribution of Deletions in Alpha-globin Gene Cluster
Öz
Background/Aims: Alpha thalassemia is an autosomal recessive congenital disease resulting from a globin protein disorder encoded by genes in the alpha thalassemia gene cluster. It presents a wide range of clinical conditions, from mild anemia to hydrops fetalis. Alpha thalassemia trait is common in Middle Eastern and Mediterranean countries. It is included in the premarital screening program in Turkey. TThe aim of this study was to determine the spectrum of alpha thalassemia deletions observed in Istanbul.
Methods: This cohort included 169 patients who were clinically suspected to have alpha thalassemia disease or carrier, and whose mutation was detected by the MLPA method.
Results: The identified variants were listed according to their frequencies and compared to previous studies conducted in different regions of Türkiye. A total of 338 alleles 61.8 % (209/338) mutations were detected. The most common variant was −α3.7 and -αMED ranked second.
Conclusions: This study reports thalassemia mutations in Istanbul, it revealed a different spectrum for some variants compared to previous studies in the region.
Anahtar Kelimeler
alpha-Thalassemia, gene deletion, alpha globin, Hemoglobin A
Kaynakça
- Vijian D, Wan Ab Rahman WS, Ponnuraj KT, Zulkafli Z, Bahar R, Yasin N, et al. Gene Mutation Spectrum among Alpha-Thalassaemia Patients in Northeast Peninsular Malaysia. Diagnostics (Basel). 2023;13(5):894. Published 2023 Feb 27. doi:10.3390/diagnostics13050894
- Onay H, Aykut A, Karaca E, Durmaz A, Solmaz AE, Çoğulu Ö, et al. Molecular spectrum of α-globin gene mutations in the Aegean region of Turkey: first observation of three α-globin gene mutations in the Turkish population. Int J Hematol 102, 1–6 (2015). https://doi.org/10.1007/s12185-015-1796-y
- Tamary H, Dgany O. Alpha-Thalassemia. 2005 Nov 1 [Updated 2020 Oct 1]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1435/
- Farashi S, Harteveld CL. Molecular basis of α-thalassemia. Blood Cells Mol Dis. 2018;70:43-53. doi:10.1016/j.bcmd.2017.09.004
- Bain, B.J. Haemoglobinopathy Diagnosis; John Wiley & Sons: Hoboken, NJ, USA, 2020.
- Chaibunruang A, Sornkayasit K, Chewasateanchai M, Sanugul P, Fucharoen G, Fucharoen S, et al. Prevalence of thalassemia among newborns: A re-visited after 20 years of a prevention and control program in northeast Thailand. Mediterr. J. Hematol. Infect. Dis. 2018, 10, e2018054.
- Seydel GS, Ayan D, Balci T, Bayraktar M, Gunturk I. Prevalence of Hemoglobinopathies in Premarital Screening in the Province of Nigde, Turkey. Hemoglobin. 2023;47(2):36-41. doi:10.1080/03630269.2023.2206971
- https://www.tuik.gov.tr/
- https://www.thd.org.tr/thdData/Books/925/alfa-talasemi.pdf
- Özsoylu Ş, Malik SA. Incidence of alpha thalassemia in Turkey. Turk J Pediatr 1982;24:235-244. 34.