Hemoglobinopathy: molecular epidemiological characteristics and health effects on Hakka people in the Meizhou region, southern China.
Hemoglobinopathy: molecular epidemiological characteristics and health effects on Hakka people in the Meizhou region, southern China.
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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
DOI：
10.1371/journal.pone.0055024
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发表时间：
2013
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;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
血红蛋白病是中国南方最常见的遗传性疾病。然而，广东省血红蛋白病的流行病学研究却很少。对梅州地区15299名“健康”无血缘关系的客家人进行外周血血红蛋白电泳和血常规检测。对疑似血红蛋白变异和胎儿血红蛋白遗传性持续存在（HPFH）的病例进一步采用PCR、DNA测序、反向斑点杂交（RDB）或多重连接依赖探针扩增（MLPA）等方法进行鉴定。另外，从15299例受试者中随机抽取1743例样本进行地贫筛查，并采用PCR和RDB法对疑似地贫携带者进行鉴定。血红蛋白变异基因频率为0.477%（73/15299）。10种血红蛋白变体的5个主要亚组为Hb E、Hb G-中国人、Hb Q-塔希兰、Hb纽约和Hb J-曼谷。对277例（15.89%，277/1743）小红细胞（MCV<82 fl）的地中海贫血可疑携带者进行筛查，用RDB基因芯片检测，共检出196条突变染色体，其中α-地中海贫血突变染色体124条，β-地中海贫血突变染色体72条。结果表明，梅州地区客家人群中常见α和β地中海贫血的杂合子频率为11.24%。发现3例HPFH/δβ地中海贫血，其中2例为越南HPFH（FPFH-7），另1例为比利时Gγ（Aγδβ）0地中海贫血。我们的研究结果提供了详细的流行病学和分子特征的血红蛋白病在客家人的梅州地区。梅州地区每年估计有25例（95%CI，15 - 38）、40例（95%CI，26 - 57）和15例（95%CI，8 - 23）胎儿有患重型或中间型β地中海贫血、Bart水肿胎儿和Hb H病的风险。
Hemoglobinopathies are the most common inherited diseases in southern China. However, there have been only a few epidemiological studies of hemoglobinopathies in Guangdong province. Peripheral blood samples were collected from 15299 “healthy” unrelated subjects of dominantly ethnic Hakka in the Meizhou region, on which hemoglobin electrophoresis and routine blood tests were performed. Suspected cases with hemoglobin variants and hereditary persistence of fetal hemoglobin (HPFH) were further characterized by PCR, DNA sequencing, reverse dot blot (RDB) or multiplex ligation-dependent probe amplification (MLPA). In addition, 1743 samples were randomly selected from the 15299 subjects for thalassemia screening, and suspected thalassemia carriers were identified by PCR and RDB. The gene frequency of hemoglobin variants was 0.477% (73/15299). The five main subgroups of the ten hemoglobin variants were Hb E, Hb G-Chinese, Hb Q-Tahiland, Hb New York and Hb J-Bangkok. 277 cases (15.89%, 277/1743) of suspected thalassemia carriers with microcytosis (MCV<82 fl) were found by thalassemia screening, and were tested by a RDB gene chip to reveal a total of 196 mutant chromosomes: including 124 α-thalassemia mutant chromosomes and 72 β-thalassemia mutant chromosomes. These results give a heterozygote frequency of 11.24% for common α and β thalassemia in the Hakka population in the Meizhou region. 3 cases of HPFH/δβ-thalassemia were found, including 2 cases of Vietnamese HPFH (FPFH-7) and a rare Belgian Gγ(Aγδβ)0–thalassemia identified in Chinese. Our results provide a detailed prevalence and molecular characterization of hemoglobinopathies in Hakka people of the Meizhou region. The estimated numbers of pregnancies each year in the Meizhou region, in which the fetus would be at risk for β thalassemia major or intermedia, Bart’s hydrops fetalis, and Hb H disease, are 25 (95% CI, 15 to 38), 40 (95% CI, 26 to 57), and 15 (95% CI, 8 to 23), respectively.
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影响因子：
3.4
作者：
Xu, XM;Zhou, YQ;Zhong, M
通讯作者：
Zhong, M
影响因子：
3.4
作者：
So, C. C.;So, A. C. Y.;Chan, L. C.
通讯作者：
Chan, L. C.
影响因子：
158.5
作者：
Lau, YL;Chan, LC;Chui, DHK
通讯作者：
Chui, DHK
血红蛋白病和疟疾的临床流行病学：系统评价和荟萃分析。
影响因子：
56.3
作者：
Taylor, Steve M.;Parobek, Christian M.;Fairhurst, Rick M.
通讯作者：
Fairhurst, Rick M.
影响因子：
3.5
作者：
Pan, H. F.;Long, G. F.;Huang, T.
通讯作者：
Huang, T.