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...
Main Authors: | , , , , |
---|---|
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 |
id |
doaj-84384c8eb75b4552ab962d898ac25d5a |
---|---|
record_format |
Article |
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 |
work_keys_str_mv |
AT yaowuzhu alphaandbetathalassemiamutationsinhubeiareaofchina AT nashen alphaandbetathalassemiamutationsinhubeiareaofchina AT xiongwang alphaandbetathalassemiamutationsinhubeiareaofchina AT juanxiao alphaandbetathalassemiamutationsinhubeiareaofchina AT yanjunlu alphaandbetathalassemiamutationsinhubeiareaofchina |
_version_ |
1721548251698561024 |