Spectrum of HBB gene mutations among 696 β–thalassemia patients and carriers in Southern Vietnam

• Published in: Molecular biology reports Vol. 49; no. 4; pp. 2601 - 2606
• Main Authors: Xinh, Phan Thị, Chuong, Ho Quoc, Ha, Nguyen Thi Thanh, Tram, Huynh Duong Bich, Van Dong, Cao, Thanh, Le Vu Ha, Hoa, Nguyen Thi Hong, Nghia, Huynh, Binh, Nguyen Tan, Dung, Phu Chi, Vu, Hoang Anh
• Format: Journal Article
• Language: English
• Published: Dordrecht Springer Netherlands 01-04-2022; Springer Nature B.V
• Subjects: 3' Untranslated regions; 5' Untranslated Regions; Alleles; Animal Anatomy; Animal Biochemistry; beta-Globins - genetics; beta-Thalassemia - genetics; Biomedical and Life Sciences; Blood diseases; Female; Genetic screening; Genotype; HBB gene; Hematological diseases; Histology; Humans; Life Sciences; Morphology; Mutation; Mutation - genetics; Original Article; Pregnancy; Prenatal diagnosis; Thalassemia; Vietnam - epidemiology; Vietnam; Vietnamese; Sequencing; β–thalassemia; HBB
• ISSN: 0301-4851; 1573-4978
• DOI: 10.1007/s11033-021-07062-w

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.