Dataset Information

Comparison of gene mutation spectrum of thalassemia in different regions of China and Southeast Asia.

ABSTRACT: BACKGROUND:Thalassemia is a common genetic disorder. High prevalence of thalassemia is found in South China, Southeast Asia, India, the Middle East, and the Mediterranean regions. Thalassemia was thought to exist only in southern China, but an increasing number of cases from northern China have been recently reported. METHODS:During 2012 to 2017, suspected thalassemia people were detected for common ?- and ?-thalassemia mutations by gap-Polymerase Chain Reaction (PCR) and reverse dot blot (RDB) analysis in Peking Union Medical College Hospital. One thousand and fifty-nine people with thalassemia mutations were analyzed retrospectively. We picked mutated individuals who originally came from northern areas, and conducted telephone follow-up survey in order to collect their ancestral information. Besides, we used "thalassemia", "mutation", and "Southeast Asian countries" as keywords to search the relevant studies in PubMed and Embase databases. RESULTS:All carriers included in our study were resided in northern China. Among them, 17.3% were native northerners and 82.7% were immigrants from southern China. Although substantial difference was found in ?- and ?-thalassemia ratio and detailed spectrum of ?- and ?-globin mutation spectrum between our data and data obtained from a previous meta-analysis literature focused on southern China, the most common gene mutations were the same. Similar ?-thalassemia mutation spectrum was found among Thai, Malaysian Chinese, and Guangdong people, however, no other similarities in gene profile were found between Chinese and other ethnic groups in Southeast Asia. CONCLUSION:Chinese people in different areas had similar gene mutation, whereas they had significantly different mutation spectrums from other ethnic groups in Southeast Asia.

SUBMITTER: Yang Z

PROVIDER: S-EPMC6565565 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature

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Comparison of gene mutation spectrum of thalassemia in different regions of China and Southeast Asia.

Yang Zhuo Z Cui Quexuan Q Zhou Wenzhe W Qiu Ling L Han Bing B

Molecular genetics & genomic medicine 20190409 6

<h4>Background</h4>Thalassemia is a common genetic disorder. High prevalence of thalassemia is found in South China, Southeast Asia, India, the Middle East, and the Mediterranean regions. Thalassemia was thought to exist only in southern China, but an increasing number of cases from northern China have been recently reported.<h4>Methods</h4>During 2012 to 2017, suspected thalassemia people were detected for common α- and β-thalassemia mutations by gap-Polymerase Chain Reaction (PCR) and reverse ...[more]

PMID: 30968607

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Project description:Background: There are limited studies on the molecular profile of thalassemia in Hainan, the free trade island in China. Our aim was to reveal the prevalence and molecular mutation spectrum of thalassemia in different ethnic groups and regions of Hainan through a large sample study for the first time. Methods: A total of 231,596 individuals from 19 cities and counties in Hainan were screened by hematological parameter analysis, and further genetic analysis was performed on individuals with MCV less than 82 fL. Results: Totally, 31,780 (13.72%) subjects were diagnosed as thalassemia carriers. The overall prevalence of α-thalassemia, β-thalassemia, and α+β-thalassemia were 11.04%, 1.48%, and 1.20%, respectively. We further analyzed the molecular profiles of thalassemia in various ethnic groups and mainly compared the difference between Han and Li. The results showed that the frequency of thalassemia in the Li population (47.03%) was much higher than that in Han (9.37%). Except for β-thalassemia (1.31% of Li vs. 1.47% of Han), the frequencies of α-thalassemia (39.59% of Li vs. 7.35% of Han) and α+β-thalassemia (6.13% of Li vs. 0.56% of Han) in the Li were obviously higher than those in Han. The high-frequent genotypes of α-thalassemia in Han were αα/--SEA (25.55%), -α3.7/αα (22.17%), -α4.2/αα (21.59%), αWSα/αα (8.93%), and -α3.7/-α4.2 (4.17%) and those of Li were -α4.2/αα (17.24%), -α3.7/αα (17.16%), -α3.7/-α4.2 (15.09%), αWSα/αα (9.69%), and αWSα/-α3.7 (8.06%), respectively. The αα/--SEA was the highest genotype of α-thalassemia in Han but only accounted for 1.87% in Li. For β-thalassemia, the top three high-frequent genotypes in both Han and Li were βCD41/42(-TTCT)/βN, β-28(A>G)/βN, and βIVS-Ⅱ-654(C>T)/βN, but the frequency of βCD41/42(-TTCT)/βN in Li (90.96%) was much higher than that in Han (56.32%) and the data reported in other provinces of China. Additionally, the prevalence of thalassemia ranged from 8.16% to 34.35% in Hainan, Wuzhishan, Baoting, Qiongzhong, and Baisha have a higher prevalence than other areas. Conclusion: Our study revealed the characteristics of ethnic and regional differences in the prevalence of thalassemia in the childbearing age population of Hainan for the first time, indicating that the prevalence of thalassemia among Li nationality is the highest in China. Those findings will be useful for genetic counseling and the prevention of thalassemia.

Dataset Information

Comparison of gene mutation spectrum of thalassemia in different regions of China and Southeast Asia.

Publications

Comparison of gene mutation spectrum of thalassemia in different regions of China and Southeast Asia.

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