Alpha and beta-Thalassemia mutations in Hubei area of China

Abstract Background Thalassemia is a group of inherited hemoglobic disorders resulting from defects in the synthesis of one or more of the hemoglobin chains, which is one of the most prevalent inherited disorders in southern China. Only few studies reported the molecular characterization of α- and β...

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Main Authors: Yaowu Zhu, Na Shen, Xiong Wang, Juan Xiao, Yanjun Lu
Format: Article
Language:English
Published: BMC 2020-01-01
Series:BMC Medical Genetics
Subjects:
Online Access:https://doi.org/10.1186/s12881-019-0925-5
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spelling doaj-84384c8eb75b4552ab962d898ac25d5a2021-04-02T19:54:43ZengBMCBMC Medical Genetics1471-23502020-01-012111510.1186/s12881-019-0925-5Alpha and beta-Thalassemia mutations in Hubei area of ChinaYaowu Zhu0Na Shen1Xiong Wang2Juan Xiao3Yanjun Lu4Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and TechnologyAbstract Background Thalassemia is a group of inherited hemoglobic disorders resulting from defects in the synthesis of one or more of the hemoglobin chains, which is one of the most prevalent inherited disorders in southern China. Only few studies reported the molecular characterization of α- and β-Thalassemia in Hubei Province in the central of China. Methods A total of 4889 clinically suspected cases of thalassemia were analyzed by Gap-PCR, PCR-based reverse dot blot (RDB). Results 1706 (33.8%) subjects harbored thalassemia mutations, including 539 (11.0%) subjects with α-thalassemia, 1140 (23.3%) subjects with β-thalassemia mutations, and 25 (0.51%) subjects with both α- and β-thalassemia mutations. Seven genotypes of α-thalassemia mutations and 29 genotypes of β-thalassemia mutations were characterized. --SEA/αα (66.05%), −α3.7/αα (24.12%), and -α4.2/αα (3.71%) accounted for 93.88% of the α-thalassemia mutations. βIVS-II-654/βN, βCD41–42/βN, βCD17/βN, βCD27–28/βN, βCD71–72/βN, β − 28/βN, β − 29/βN, βCD43/βN, βE/βN, accounting for 96.40% of all β-thalassemia genotypes. Furthermore, mean corpuscular volume (MCV) and mean corpuscular Hb (MCH) were sensitive markers for both β-thalassemia and α-thalassemia with --SEA/αα, but not -α3.7/αα and -α4.2/αα. Conclusions: Our data indicated great heterogeneity and extensive spectrum of thalassemias in Hubei province of China.https://doi.org/10.1186/s12881-019-0925-5ThalassemiaGlobin mutationPrevalence SpectrumHubei region
collection DOAJ
language English
format Article
sources DOAJ
author Yaowu Zhu
Na Shen
Xiong Wang
Juan Xiao
Yanjun Lu
spellingShingle Yaowu Zhu
Na Shen
Xiong Wang
Juan Xiao
Yanjun Lu
Alpha and beta-Thalassemia mutations in Hubei area of China
BMC Medical Genetics
Thalassemia
Globin mutation
Prevalence Spectrum
Hubei region
author_facet Yaowu Zhu
Na Shen
Xiong Wang
Juan Xiao
Yanjun Lu
author_sort Yaowu Zhu
title Alpha and beta-Thalassemia mutations in Hubei area of China
title_short Alpha and beta-Thalassemia mutations in Hubei area of China
title_full Alpha and beta-Thalassemia mutations in Hubei area of China
title_fullStr Alpha and beta-Thalassemia mutations in Hubei area of China
title_full_unstemmed Alpha and beta-Thalassemia mutations in Hubei area of China
title_sort alpha and beta-thalassemia mutations in hubei area of china
publisher BMC
series BMC Medical Genetics
issn 1471-2350
publishDate 2020-01-01
description Abstract Background Thalassemia is a group of inherited hemoglobic disorders resulting from defects in the synthesis of one or more of the hemoglobin chains, which is one of the most prevalent inherited disorders in southern China. Only few studies reported the molecular characterization of α- and β-Thalassemia in Hubei Province in the central of China. Methods A total of 4889 clinically suspected cases of thalassemia were analyzed by Gap-PCR, PCR-based reverse dot blot (RDB). Results 1706 (33.8%) subjects harbored thalassemia mutations, including 539 (11.0%) subjects with α-thalassemia, 1140 (23.3%) subjects with β-thalassemia mutations, and 25 (0.51%) subjects with both α- and β-thalassemia mutations. Seven genotypes of α-thalassemia mutations and 29 genotypes of β-thalassemia mutations were characterized. --SEA/αα (66.05%), −α3.7/αα (24.12%), and -α4.2/αα (3.71%) accounted for 93.88% of the α-thalassemia mutations. βIVS-II-654/βN, βCD41–42/βN, βCD17/βN, βCD27–28/βN, βCD71–72/βN, β − 28/βN, β − 29/βN, βCD43/βN, βE/βN, accounting for 96.40% of all β-thalassemia genotypes. Furthermore, mean corpuscular volume (MCV) and mean corpuscular Hb (MCH) were sensitive markers for both β-thalassemia and α-thalassemia with --SEA/αα, but not -α3.7/αα and -α4.2/αα. Conclusions: Our data indicated great heterogeneity and extensive spectrum of thalassemias in Hubei province of China.
topic Thalassemia
Globin mutation
Prevalence Spectrum
Hubei region
url https://doi.org/10.1186/s12881-019-0925-5
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