血红蛋白E患者的血液学表型与基因型分析

doi:10.3760/cma.j.issn.1007-1245.2024.09.013

国际医药卫生导报 ›› 2024, Vol. 30 ›› Issue (9): 1465-1468.DOI: 10.3760/cma.j.issn.1007-1245.2024.09.013

血红蛋白E患者的血液学表型与基因型分析

柴慧颖梁丽华郭浩刘攀汤媛何天文

广东省妇幼保健院医学遗传中心，广州　511442

收稿日期:2023-09-23 出版日期:2024-05-01 发布日期:2024-05-30
通讯作者: 何天文，Email：love830415@126.com
基金资助:
广东省医学科学技术研究基金（B2015102）

Hematological phenotype and genotype analysis of hemoglobin E

Chai Huiying, Liang Lihua, Guo Hao, Liu Pan, Tang Yuan, He Tianwen

Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou 511442, China

Received:2023-09-23 Online:2024-05-01 Published:2024-05-30
Contact: He Tianwen, Email: love830415@126.com
Supported by:
Medical Science and Technology Research Fund in Guangdong Province (B2015102)

摘要/Abstract

摘要：

目的　分析血红蛋白E（HbE）患者的血液学表型特征与基因型分布的关系，为地中海贫血的筛查和预防控制工作提供更多的临床参考资料。方法　回顾性分析2016年1月至2022年12月在广东省妇幼保健院地中海贫血筛查实验室检出的275例HbE患者，其中男性108例，女性167例，年龄2～46岁。按照基因型分为HbE杂合子（226例）、HbE纯合子（1例）、HbE/α-地中海贫血（40例）和HbE/β-地中海贫血（8例）4组。采用血液细胞分析仪测定血红蛋白（Hb）、平均红细胞体积（MCV）和平均红细胞Hb含量（MCH）各项红细胞参数；采用毛细管电泳方法分析HbE、HbA2和HbF各项Hb组分。对4组样本的红细胞参数（Hb、MCV、MCH）和Hb组分（HbE、HbA2、HbF）进行单因素方差分析。结果　HbE杂合子、HbE纯合子、HbE/α-地中海贫血和HbE/β-地中海贫血4组之间，其血液学表型，不论是红细胞参数（Hb、MCV、MCH）还是Hb组分（HbE、HbA2、HbF），组间比较差异均有统计学意义（F=24.19、39.24、48.28、592.69、33.34、980.25，均P<0.05）。其中，HbE杂合子［Hb（129.2±17.4）g/L、MCV（77.8±3.3）fl、MCH（25.8±1.3）pg］和HbE/α-地中海贫血［Hb（125.3±13.0）g/L、MCV（74.4±7.2）fl、MCH（24.1±3.0）pg］的血液学表型较轻，HbE/β-地中海贫血［Hb（78.0±15.9）g/L、MCV（61.9±8.2）fl、MCH（18.7±2.5）pg］的血液学表型最重。结论　HbE患者不同基因型组合的血液学表型差异较大，仅依靠血细胞分析结果进行产前筛查会造成一定比例的漏诊。

关键词:

血红蛋白E, 血液学表型, 基因型

Abstract:

Objective　To analyze the correlation between hematological phenotype characteristics and genotype distribution in patients with hemoglobin E (HbE), and to provide clinical references for the screening, prevention, and control of thalassemia. Methods　Two hundred and seventy-five patients with HbE detected by the Thalassemia Screening Laboratory of Guangdong Women and Children Hospital from January 2016 to December 2022 were retrospectively analyzed, including 108 males and 167 females. They were 2-46 years old. According to the genotypes, the patients were divided into HbE heterozygous(226 cases), HbE homozygous(1 case), HbE/α-thalassemia (40 cases), and HbE/β-thalassemia (8 cases) groups. The blood cell analyzer was used to analyze the red blood cell parameters of hemoglobin (Hb), mean corpuscular volume (MCV), and mean corpuscular hemoglobin (MCH). The capillary electrophoresis was used to analyze the hemoglobin components of HbE, HbA2,and HbF. The red blood cell parameters (Hb, MCV, and MCH) and hemoglobin components (HbE, HbA2, and HbF) of the four groups were analyzed statistically by one-way analysis of variance. Results　There were statistical differences in red blood cell parameters (Hb, MCV, and MCH) and hemoglobin components (HbE, HbA2, and HbF) between the 4 groups (F=24.19,39.24,48.28,592.69,33.34 and 980.25; all P<0.05). The HbE heterozygous group [Hb (129.2±17.4) g/L, MCV (77.8±3.3) fl, and MCH (25.8±1.3) pg] and the HbE heterozygous/α-thalassemia group [Hb (125.3±13.0) g/L, MCV (74.4±7.2) fl, and MCH (24.1±3.0) pg] had the lightest hematological phenotype, while the HbE/β-thalassemia group [Hb (78.0±15.9) g/L, MCV (61.9±8.2) fl, and MCH (18.7±2.5) pg] had the heaviest hematological phenotype. Conclusions　Different genotypes of patients with HbE have differences in hematological phenotype; prenatal screening only based on the results of blood cell analysis will lead to a certain proportion of missed diagnosis.

Key words:

Hemoglobin E, Hematological phenotype, Genotype

柴慧颖梁丽华郭浩刘攀汤媛何天文.

血红蛋白E患者的血液学表型与基因型分析 [J]. 国际医药卫生导报, 2024, 30(9): 1465-1468.

Chai Huiying, Liang Lihua, Guo Hao, Liu Pan, Tang Yuan, He Tianwen.

Hematological phenotype and genotype analysis of hemoglobin E [J]. International Medicine and Health Guidance News, 2024, 30(9): 1465-1468.

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血红蛋白E患者的血液学表型与基因型分析

Hematological phenotype and genotype analysis of hemoglobin E

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