Molecular epidemiological characterization and health burden of thalassemia in Jiangxi Province, P. R. China.
Molecular epidemiological characterization and health burden of thalassemia in Jiangxi Province, P. R. China.
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中国江西省地中海贫血的分子流行病学特征和健康负担。
DOI：
10.1371/journal.pone.0101505
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发表时间：
2014
期刊：
影响因子：
3.7
通讯作者：
Yang LY
中科院分区：
文献类型：
--
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
地中海贫血是中国南方最常见的遗传性疾病。然而，由于缺乏流行病学资料，江西省卫生系统和政府往往忽视了这一疾病。应用全血细胞计数和反向斑点杂交（RDB）基因芯片技术，对江西省三个地区的客家汉族和赣语汉族9489例地中海贫血进行了检测。对1182例小红细胞（MCV<82 fL）的地中海贫血可疑携带者进行CBC计数，用RDB基因芯片检测，共检出突变染色体594条，其中α-地中海贫血突变染色体433条，β-地中海贫血突变染色体172条。结果表明，赣南地区地中海贫血患病率较高，杂合子频率为9.49%，而赣中（3.90%）和赣北方（2.63%）的地中海贫血患病率较低。根据流行病学资料，估计江西省每年有34例（95% CI，16 ~ 58）、79例（95% CI，50 ~ 114）和39例（95% CI，27 ~ 58）胎儿存在重型或中间型β地中海贫血、Bart's水肿胎儿和Hb H病的风险。建议建立地贫防治网络，尤其是赣南地区（客家汉族）地贫高发区，建立地贫数据库、血液学分析实验室、遗传咨询门诊、产前诊断中心和新生儿筛查中心。
Thalassemia is the most common inherited disease in southern China. However, this disorder is usually ignored by Jiangxi provincial health system and government due to lack of epidemiological data. A total of 9489 samples from Hakka Han and Gan-speaking Han in three geographical areas of Jiangxi Province were analyzed for both complete blood cell (CBC) count and reverse dot blot (RDB) gene chip for thalassemia. 1182 cases of suspected thalassemia carriers with microcytosis (MCV<82 fL) were found by CBC count, and were tested by RDB gene chip to reveal a total of 594 mutant chromosomes, including 433 α-thalassemia mutant chromosomes and 172 β-thalassemia mutant chromosomes. Our results indicated a higher prevalence of thalassemia with the heterozygote frequency of 9.49% in southern Jiangxi province, whereas the low frequency was found in middle (3.90%) and northern Jiangxi (2.63%). Based on the epidemiological data, the estimated numbers of pregnancies in Jiangxi province in which the fetus is at risk for β-thalassemia major or intermedia, Bart's hydrops fetalis and Hb H disease are 34 (95% CI, 16 to 58), 79 (95% CI, 50 to 114) and 39 (95% CI, 27 to 58) per year, respectively. We suggested that prevention network of thalassemia should be established, especially in high prevalent southern Jiangxi (Hakka Han), including establishment of thalassemia database collection, hematological analysis laboratories, genetic counselling clinics, prenatal diagnosis centers and neonatal screening centers.
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影响因子：
3.4
作者：
Xu, XM;Zhou, YQ;Zhong, M
通讯作者：
Zhong, M
DOI：
10.1111/j.1751-553x.2008.01095.x
发表时间：
2010-02-01
影响因子：
3
作者：
Lin, H. -J.;Shih, M. -C.;Chang, J. -G.
通讯作者：
Chang, J. -G.
影响因子：
158.5
作者：
Chen, FE;Ooi, C;Chan, V
通讯作者：
Chan, V
影响因子：
2.3
作者：
Giambona, Antonino;Vinciguerra, Margherita;Maggio, Aurelio
通讯作者：
Maggio, Aurelio
血红蛋白病：华南梅州地区客家人的分子流行病学特征及其健康影响
影响因子：
3.7
作者：
Lin M;Wen YF;Wu JR;Wang Q;Zheng L;Liu GR;Huang Y;Yang H;Lin F;Zhan XF;Lin CP;Yang HT;Weng QQ;Huang FT;Wang Y;Yao MQ;Chen HZ;Wu DH;Zeng JB;Zeng RX;Yang H;Li GC;Lu M;Zhu JJ;Xie LX;Wang JL;Yang LY
通讯作者：
Yang LY