Prevalence and genetic analysis of thalassemia in childbearing age population of Hainan, The Free Trade Island in Southern China.
Prevalence and genetic analysis of thalassemia in childbearing age population of Hainan, The Free Trade Island in Southern China.
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DOI：
10.1002/jcla.24260
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发表时间：
2022-03
影响因子：
2.7
通讯作者：
Xiao M
中科院分区：
文献类型：
--
作者：
Wang M;Zhang X;Zhao Y;Lu Z;Xiao M
海南是中国地中海贫血高发地区之一，但全省的流行病学资料尚未报道。本研究的目的是揭示海南育龄人群地中海贫血的真实患病率和分子突变谱。通过血液学参数分析，对海南省19个市县的166936例个体进行筛选，并对MCV小于82fL的个体进行遗传分析。共有21,619名（12.95%）受试者被诊断为地中海贫血携带者或患者。α‐地中海贫血、β‐地中海贫血和α+β‐地中海贫血的总患病率分别为10.39%、1.38%和1.18%。鉴定出11个α‐地中海贫血突变和16个β‐地中海贫血突变。α地中海贫血应承担的高频繁的基因型是量α3.7 /αα(19.70%)、高α自4.2 /αα(19.39%),αα/因特网海(15.60%),αWSα/αα(9.24%),和公/α3.7 / 4.2(8.90%),α和β地中海贫血是应承担的βCD41/42(−TTCT) / N(58.92%)、ββ−28 (> G) /βN (16.05%), iv级β−Ⅱ−654 (C > T) / N(8.42%)、ββCD71/72 (+) / N(6.03%)、ββCD17 (> T) / N(5.47%)、β,βCD26 (GAG >亚美大陆煤层气有限公司)/βN(2.69%)。此外，还首次报道了海南地区α‐[Fusion， HKαα, αααanti4.2, IVS‐II‐55 (T>G), IVS‐II‐119 (- G,+CTCGGCCC)]和β‐珠蛋白基因[- 50 (G>A), IVS‐Ⅱ‐81 (C>T)]的罕见突变频率和血液学特征。本研究显示海南育龄人群中地中海贫血的高患病率和广泛的分子谱，表明海南的地中海贫血患病率在中国所有地区中排名第二。这一发现将有助于地中海贫血的遗传咨询和预防。
Hainan has one of the high incidences of thalassemia in China, but the epidemiological data in the whole province has not been reported yet. The objective of our study was to reveal the true prevalence and molecular mutation spectrum of thalassemia in the population of Hainan who are of childbearing age. We screened 166,936 individuals from 19 cities and counties in Hainan by hematological parameters analysis, and further conducted genetic analysis for individuals whose MCV was less than 82fL. In total, 21,619 (12.95%) subjects were diagnosed as thalassemia carriers or patients. The overall prevalence of α‐thalassemia, β‐thalassemia, and α+β‐thalassemia were 10.39%, 1.38%, and 1.18%, respectively. Eleven α‐thalassemia mutations and sixteen β‐thalassemia mutations were identified. The high‐frequent genotypes of α‐thalassemia were ‐α3.7/αα (19.70%), ‐α4.2/αα (19.39%), αα/‐‐SEA (15.60%), αWSα/αα (9.24%), and ‐α3.7/‐α4.2 (8.90%), and those of β‐thalassemia were βCD41/42(−TTCT)/βN (58.92%), β−28(A>G)/βN (16.05%), βIVS−Ⅱ−654(C>T)/βN (8.42%), βCD71/72(+A)/βN (6.03%), βCD17(A>T)/βN (5.47%), and βCD26 (GAG>AAG)/βN (2.69%). In addition, the frequencies and hematological profiles of many rare mutations of α‐ [Fusion, HKαα, αααanti4.2, IVS‐II‐55 (T>G), IVS‐II‐119 (−G,+CTCGGCCC)] and β‐globin genes [−50 (G>A), IVS‐Ⅱ‐81 (C>T)] in Hainan were reported for the first time. Our study revealed the high prevalence and extensive molecular spectrum of thalassemia in childbearing age population of Hainan, suggesting thalassemia in Hainan ranks second in prevalence among all regions in China. The findings will be useful for genetic counseling and prevention of thalassemia.
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DOI：
10.7534/j.issn.1009-2137.2018.04.033
发表时间：
2018-08-01
期刊：
Zhongguo shi yan xue ye xue za zhi
影响因子：
--
作者：
Li, Mengi;Xiang, Song-He;Bo, Jian
通讯作者：
Bo, Jian
中国大陆地中海贫血患病率：流行病学调查证据
影响因子：
4.6
作者：
Lai K;Huang G;Su L;He Y
通讯作者：
He Y
中国南方榆林地区α-和β-地中海贫血的分子特征
影响因子：
3.5
作者：
He, Sheng;Li, Jihui;Qiu, Xiaoxia
通讯作者：
Qiu, Xiaoxia
中国江西省地中海贫血的分子流行病学特征和健康负担。
影响因子：
3.7
作者：
Lin M;Zhong TY;Chen YG;Wang JZ;Wu JR;Lin F;Tong X;Yang HT;Hu XM;Hu R;Zhan XF;Yang H;Luo ZY;Li WY;Yang LY
通讯作者：
Yang LY
影响因子：
2.7
作者：
Peng Q;Zhang Z;Li S;Cheng C;Li W;Rao C;Zhong B;Lu X
通讯作者：
Lu X