| 摘要: |
| ［摘要］ 目的 分析血红蛋白（Hb）New York在不同年龄段的携带人群中的表达差异。方法 收集2017-10～2020-03在该院体检、就诊的103 351例外周血和脐带血，55 909例新生儿末梢血，对筛查结果为Hb New York的样本进行血液学分析和基因型检测。结果 携带Hb New York的样本共185例，其中脐带血4例，新生儿58例，成人123例。胎儿脐带血中Hb New York的含量为（1.30±0.94）%，新生儿含量为（7.87±6.21）%，成人含量为（43.30±2.83）%。携带Hb New York的成人血液学参数均处于正常参考值范围，除红细胞平均血红蛋白浓度（MCHC）外，其他参数与正常成人对照组比较差异均有统计学意义。基因检测显示，Hb New York杂合子167例，Hb New York复合静止型α-地贫7例，Hb New York复合轻型α-地贫11例。结论 Hb New York在不同年龄人群的含量不同，与β珠蛋白基因的表达水平正相关。携带者血液学表型正常，合并地贫易表现为贫血，在地贫筛查与婚检、孕检的遗传咨询中值得关注。 |
| 关键词: 异常血红蛋白 血红蛋白New York 基因突变 血液学表型 |
| DOI：10.3969/j.issn.1674-3806.2020.10.06 |
| 分类号:R 446.11 |
| 基金项目:国家自然科学基金项目（编号：81660034，81760615）；中央引导地方科技发展专项基金项目（编号：桂科ZY1949016）；广西自然科学基金项目（编号：2016GXNSFAA380078） |
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| Differences of hemoglobin New York expressions in people of different ages |
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ZHOU Chao-fan, ZUO Yang-jin, CHEN Qiu-li, et al.
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Central Laboratory of Genetic Metabolism, Maternity and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Nanning 530000, China
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| Abstract: |
| ［Abstract］ Objective To analyze the expression differences of hemoglobin(Hb) New York in different age groups carrying Hb New York. Methods One hundred and three thousand three hundred and fifty-one peripheral blood samples and umbilical cord blood samples, and 55 909 peripheral blood samples of newborns were collected from the subjects who had a physical examination or received treatment in our hospital during October 2017 and March 2020. The samples with Hb New York screening results were performed for hematological analysis and genotyping. Results A total of 185 samples carrying Hb New York were collected, including 4 cases of umbilical cord blood, 58 cases of newborns and 123 cases of adults. The content of Hb New York was (1.30±0.94)% in the fetal umbilical cord blood, (7.87±6.21)% in the newborns, and (43.30±2.83)% in the adults. The parameters of hematology of the adults carrying Hb New York were within the normal reference ranges. Except mean corpuscular hemoglobin concentration(MCHC), there were significant differences in other parameters between the adults carrying Hb New York and the normal control group. Genotyping showed that Hb New York heterozygotes in 167 cases, Hb New York/α-thalassaemia silence compound heterozygous in 7 cases, and Hb New York/α-thalassaemia trait compound heterozygous in 11 cases. Conclusion The content of Hb New York is different in people of different ages, which is positively correlated with the expression of β globin gene.The carriers have normal hematological phenotypes and are prone to anemia in combination with thalassemia, which is worthy of attention in thalassemia screening and genetic counseling of premarital and pregnant examinations. |
| Key words: Abnormal hemoglobin Hemoglobin(Hb) New York Gene mutation Hematological phenotype |
