Abstract
Background
Thalassemias are common inherited blood disorders that have been extensively studied in Asia. Thus far, data on mutations of the HBB gene in Vietnamese patients with β-thalassemia are limited to small studies.
Methods
We recruited 696 β–thalassemia patients and carriers in southern Vietnam and analyzed for the HBB gene mutations using Sanger sequencing technology.
Results
We documented 27 types of known mutations and 10 types of novel variants on 737 alleles out of 1392 surveyed alleles. The three most common mutations, which account for more than ¾ of all mutant alleles, were c.79G > A (HbE), c.124_127delTTCT, and c.52A > T. The novel variants were mainly located in 5′ untranslated region (c.-92delC and c.-67A > G) and 3′ untranslated region (c.*4C > T, c.*116_*117insA, c.*142 T > C, c.*156G > C, c.*176_*177insA, and c.*247 T > C), except for one in intron 2 (c.316-99 T > G) and one in exon 3 (c.385delG).
Conclusion
We provide here a comprehensive mutation spectrum of the HBB gene in Southern Vietnam, which is crucial for carrier screening and prenatal diagnosis in the future.
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Acknowledgements
The authors would like to thank the people of Southern Vietnam for participating in this study.
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PTX, HQC, and HAV designed the study and wrote the manuscript. PTX, HDBT, LVHT, NTHH, HN, NTB, and PCD recruited the patients. PTX, HQC, NTTH, CVD, and HAV designed and performed the experiments. All authors read and approved the manuscript.
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This study was approved by the Ethics Committee of Blood Transfusion and Hematology Hospital at Ho Chi Minh City, Vietnam (approval number 0968/TMHH-HĐĐĐ).
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Xinh, P.T., Chuong, H.Q., Ha, N.T.T. et al. Spectrum of HBB gene mutations among 696 β–thalassemia patients and carriers in Southern Vietnam. Mol Biol Rep 49, 2601–2606 (2022). https://doi.org/10.1007/s11033-021-07062-w
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DOI: https://doi.org/10.1007/s11033-021-07062-w