Gene mutation spectrum and hematological phenotype analysis of abnormal hemoglobinopathy in couples of childbearing age in Nanhai District, Foshan
10.3760/cma.j.cn231583-20240603-00145
- VernacularTitle:佛山南海区育龄夫妇异常血红蛋白病基因突变谱和血液学表型分析
- Author:
Qianting HUANG
1
;
Fada YANG
;
Fengbing LYU
;
Weibiao LYU
Author Information
1. 佛山市南海区妇幼保健院检验科，佛山 528200
- Keywords:
Genes;
Abnormal hemoglobinopathy;
Hemtological phenotypes
- From:
Chinese Journal of Endemiology
2024;43(11):866-873
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the gene mutation types and clinical hematological phenotypes of abnormal hemoglobinopathy in couples of childbearing age in Nanhai District, Foshan.Methods:The hemoglobinopathy gene sequencing, blood routine testing, and hemoglobin capillary electrophoresis results of 24 748 samples from prenatal and premarital examinations at Nanhai Maternity and Child Healthcare Hospital of Foshan from August 2017 to November 2023 were retrospectively analyzed.Results:Totally 41 abnormal hemoglobinopathy genotypes were detected in 294 cases, the detection rate was 1.19% (294/24 748). There were 24 genotypes involved in α globin structural variation, with 172 cases. There were 13 genetypes involved in β globin structural variation, with 118 cases. There were 4 genotypes involved in α + β globin structural variation, with 4 cases. Among them, Hb New York (82 cases), Hb Hekinan Ⅱ (76 cases), Hb Owari (29 cases), and Hb Q-Thailand (27 cases) were the most common genetypes. Among 274 cases of abnormal hemoglobinopathy gene carriers, 89 cases were positive in blood routine phenotype, the detection rate was 32.48%, including 81 cases with abnormal mean corpuscular volume (MCV) and 71 cases with abnormal mean corpuscular hemoglobin (MCH). There were 166 cases with positive phenotype in hemoglobin capillary electrophoresis, the detection rate was 60.58%, among them 81 cases with abnormal HbA 2 and 133 cases with abnormal hemoglobin band. Most of the abnormal hemoglobinopathy gene carriers without combined α or β-thalassemia had no clinical symptoms or only mild clinical symptoms, and a small number had positive hematological phenotypes. Conclusions:The incidence of abnormal hemoglobinopathy is relatively high among couples of childbearing age in Nanhai District, Foshan, and the main variation is α globin structure variation. Some genetypes are positive for hemoglobin capillary electrophoresis, and a few gene types show anemia symptoms.
