Analysis of Gene Mutation Types of α- and β-Thalassemia in Fuzhou, Fujian Province in China

Xu, Chang; Liao, Bin; Qi, Yan; Huangfu, Zhenping; Chen, Jiawei

doi:10.1080/03630269.2018.1496096

Cited by 15 publications

(22 citation statements)

References 13 publications

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“…We also found a high prevalence of α-and β-thalassemia carrier status. The frequency of α-thalassemia shown in our study were higher than that reported in other provinces of China, such as Guangdong [3], Fujian [5],…”

Section: Discussioncontrasting

confidence: 90%

“…In our study, the prevalence of thalassemia carrier status in Sanya City was lower than that reported by Li [19]. Among α-thalassemia genotypes,-SEA/αα, which is consistent with the previous research by Sanya City and Ding'an County of Hainan Province, Sichuan, Fujian, Guangdong and Guangxi [19,20,15,5,3,9], but different from that of Lingshui Autonomous County of Hainan…”

Section: Discussionsupporting

confidence: 86%

“…Southern China including Guangxi, Guangdong, Fujian and Hainan Provinces are the high incidence areas of the disease, and the spectrum of the mutations of these areas have been examined previously [3][4][5].…”

Section: Introductionmentioning

confidence: 99%

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Prevalence and Molecular Spectrum of α- and β-Globin Gene Mutations in Hainan, China

Wang

Sun

Chen

et al. 2020

Preprint

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Background: Thalassemia is one of the most prevalent inherited single gene diseases. Prevention of β-thalassemia through prenatal diagnosis is the one of the most effective and direct approach to control the spread of this life-threatening disease. This study aims to determine the prenatal diagnosis of α-thalassemia and β-thalassemia in 3049 families among eighteen regions of Hainan Province using molecular diagnosis.Methods: This study enrolled a total of 3049 couples and their fetuses at The First Affiliated Hospital of Hainan Medical University from January 2004 to March 2020. Genomic DNA was extracted from peripheral blood of the couples and villus, amniotic fluid, or fetal cord blood of fetuses. DNA-based diagnosis was performed using polymerase chain reaction. Results: Here, the most commonly detected mutation of α-thalassemia was a South-East Asian deletion (31.53%), followed by –α4.2/αα (11.15%), –α3.7/αα (11.02%). The most common mutation for β-thalassemia was CD41/42, followed by -28, accounting for 30.27% and 2.56%, respectively. The regions with the highest prevalence were the coastal regions and the regions with the lowest prevalence were Wenchang, Lingao and Ding’an. We also examined thalassemia gene mutations in Han people and other minority groups and found that the most common gene mutations in different ethnic were not homogeneous. Prenatal diagnosis showed 556 normal, 118 α-thalassemia hydrops and 161 β-thalassemia major fetuses. Conclusion: Our findings provide important information for clinical genetic counseling of prenatal diagnosis for thalassemia major in Hainan Province.

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Section: Discussioncontrasting

confidence: 90%

Section: Discussionsupporting

confidence: 86%

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Prevalence and Molecular Spectrum of α- and β-Globin Gene Mutations in Hainan, China

Wang

Sun

Chen

et al. 2020

Preprint

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“…Of them, --SEA /αα, -α 3.7 /αα, and -α 4.2 /αα are the most common types. The genotype pattern of the αthalassemia in Guizhou is similar to that in other Southern provinces such as Fujian, Guangdong, and Guangxi [12,13].…”

Section: Discussionsupporting

confidence: 60%

Prevalence of Thalassemia-carrier of Couples at Childbearing Age and Risk Prediction of Thalassemia

Wu¹,

Zhang²,

Luo³

et al. 2021

Preprint

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Background: Thalassemia is highly prevalent hematologic disease in Guizhou, China. This study aims to determine the epidemiological characteristics of thalassemia for couples at childbearing age in this subpopulation.Results: There were 4481 couples at childbearing age recruited for thalassemia-carrier screening through both traditional hematological tests and next-generation sequencing (NGS). Of them, 1314 (14.66%) thalassemia-carriers were identified, including 857 (9.76%) α-thalassemia, 391 (4.36%) β-thalassemia, and 48 (0.54%) composite α and β-thalassemia. Of them, 38 couples were high-risk thalassemia carriers. In addition, 12 a-globin gene alterations and 16 b-globin mutations were detected including four novel thalassemia mutations. SEA is the most common α-thalassemia genotype (26.86%), CD41-42 is the most prevalent β-thalassemia genotype (36.57%); the αα/-α3.7 + CD41-42 is the most frequent composite α and β-thalassemia genotype (18.75%). Ethnically, the Zhuang has the highest rate of thalassemia-gene carriers among the ethnic groups. Geographically, Qiannan presented the highest rate of thalassemia-gene carrier. Conclusion: This result enriched the genetic map of thalassemia and provided thalassemia genetic counseling and fertility-guidance for thalassemia-carriers in Guizhou, China. The NGS is so far the most accurate method for population thalassemia screening.

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“…The DNA was extracted using the DNA blood extraction kit (Tiangen Bio-Tech Co. Ltd., Beijing, China) according to the manufacturer's instructions. Gap-polymerase chain reaction (gap-PCR) and PCR-reverse dot-blot assays were used to analyze α-thalassemia and β-thalassemia mutations with commercial kits from Yaneng Biosciences (Shenzhen, Guangdong, China) as previously described [11].…”

Section: Genetic Analysismentioning

confidence: 99%

Alpha and beta-Thalassemia mutations in Hubei area of China

et al. 2020

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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 αand 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 αand β-thalassemia mutations. Seven genotypes of α-thalassemia mutations and 29 genotypes of β-thalassemia mutations were characterized.-SEA /αα (66.05%), −α 3.7 /αα (24.12%), and-α 4.2 /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-α 3.7 /αα and-α 4.2 /αα. Conclusions: Our data indicated great heterogeneity and extensive spectrum of thalassemias in Hubei province of China.

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Analysis of Gene Mutation Types of α- and β-Thalassemia in Fuzhou, Fujian Province in China

Cited by 15 publications

References 13 publications

Prevalence and Molecular Spectrum of α- and β-Globin Gene Mutations in Hainan, China

Prevalence and Molecular Spectrum of α- and β-Globin Gene Mutations in Hainan, China

Prevalence of Thalassemia-carrier of Couples at Childbearing Age and Risk Prediction of Thalassemia

Alpha and beta-Thalassemia mutations in Hubei area of China

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