Molecular epidemiological and hematological profile of thalassemia in the Dongguan Region of Guangdong Province, Southern China.
Molecular epidemiological and hematological profile of thalassemia in the Dongguan Region of Guangdong Province, Southern China.
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DOI：
10.1002/jcla.23596
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发表时间：
2021-03
影响因子：
2.7
通讯作者：
Lu X
中科院分区：
文献类型：
--
作者：
Peng Q;Zhang Z;Li S;Cheng C;Li W;Rao C;Zhong B;Lu X
地中海贫血是热带和亚热带地区常见的遗传性血液病。本研究旨在调查中国南方东莞地区地中海贫血的突变谱，综合分析不同类型珠蛋白突变的地中海贫血携带者的血液学特征。对广东省东莞地区19 442人进行血液学筛查，包括平均红细胞体积（MCV）、平均红细胞血红蛋白含量（MCH）和平均红细胞血红蛋白浓度（MCHC）等血液学指标。然后，通过NGS和gap - PCR联合遗传分析对4891例疑似地中海贫血携带者进行进一步研究。其中α‐地中海贫血1483例（7.6%），β‐地中海贫血741例（3.8%），α‐和β‐地中海贫血共遗传95例（0.5%）。在α‐地中海贫血携带者中，表型严重程度随着无功能α‐珠蛋白基因数量的增加而增加。-SEA /αWSα基因型患者的临床表型较其他Hb H疾病患者轻。β -地中海贫血中，β0和β+携带者的MCV和MCH均显著降低。这是东莞地区首次对地中海贫血进行全面的分子流行病学调查和血液学分析。本研究将有利于临床遗传咨询，并可能帮助儿科医生对不同类型的地中海贫血做出正确的诊断。本研究首次对东莞地区地中海贫血患者进行大规模流行病学调查和全谱突变和血液学分析。本研究结果可为减少重度地中海贫血的遗传咨询和预防措施提供参考。此外，本研究中的基因型-表型相关性可能有助于临床医生在遗传咨询中快速准确地转诊。
Thalassemia is a common inherited hematological disease in tropical and subtropical regions. This study aimed to investigate the mutation spectrum of thalassemia in the Dongguan region of southern China and comprehensively analyze hematologic features of thalassemia carriers with various types of globin mutations. A hematological screening including hematological indices such as mean corpuscular volume (MCV), mean corpuscular hemoglobin content (MCH), and mean corpuscular hemoglobin concentration (MCHC) was conducted in 19 442 people from Dongguan region, Guangdong province of China. Then, 4891 suspected thalassemia carriers were further investigated by genetic analysis of combined NGS and gap‐PCR. Totally, 2319 (11.9%) cases were diagnosed as carriers of thalassemia, of which 1483 cases (7.6%) were α‐thalassemia, 741 cases (3.8%) were β‐thalassemia, and 95 cases (0.5%) were co‐inheritance of α‐ and β‐thalassemia. In α‐thalassemia carriers, the phenotypic severity increases with the number of nonfunctional α‐globin genes. The patients with –SEA/αWSα genotype have less severe clinical phenotypes than those with other Hb H diseases. As for β‐thalassemia, the MCV and MCH in both β0 and β+ carriers are markedly reduced. This is the first comprehensive molecular epidemiological survey and hematological profiling of thalassemia in Dongguan area. This study will be benefit for genetic counseling in the clinic and may help pediatricians to make a correct diagnosis of different types of thalassemia. This study is the first large‐scale epidemiological investigation and full‐spectrum analysis of mutations and hematological profile in thalassemia in Dongguan, southern China. The results of this study will provide reference for genetic counseling and preventive measures to reduce cases of the severe thalassemia. In addition, the genotype‐phenotype correlation in this study might help the clinicians to have rapid and accurate referrals in genetic counseling.
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影响因子：
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