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- Title
Spectrum of HBB gene mutations among 696 β–thalassemia patients and carriers in Southern Vietnam.
- 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
- 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.
- Subjects
VIETNAM; MEDICAL screening; PRENATAL diagnosis; ALLELES; VIETNAMESE people; GENETIC mutation
- Publication
Molecular Biology Reports, 2022, Vol 49, Issue 4, p2601
- ISSN
0301-4851
- Publication type
Article
- DOI
10.1007/s11033-021-07062-w