Analysis of Abnormal Hemoglobin Phenotypes and Gene Mutation in Diabetes Screening Population in Xi'an Region
10.3969/j.issn.1671-7414.2025.01.003
- VernacularTitle:西安地区糖尿病筛查人群异常血红蛋白表型和基因突变分析
- Author:
Nan XU
1
;
Zhi GUO
;
Liang LIANG
;
Yan GENG
;
Youqiong LI
Author Information
1. 西安交通大学第二附属医院医学检验科,西安 710004
- Publication Type:Journal Article
- Keywords:
Xi'an region;
abnormal hemoglobin;
high performance liquid chromatography (HPLC);
HbA1c
- From:
Journal of Modern Laboratory Medicine
2025;40(1):13-16,23
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the mutational spectrum and phenotype of abnormal hemoglobin in the diabetes screening population in Xi'an Region. Methods A total of 30356 patients from the Second Affiliated Hospital of Xi'an Jiaotong University were collected and measured for HbA1c by high-performance liquid chromatography (HPLC) from January 2022 to December 2022. Both complete blood count and hemoglobin analysis were carried out when HPLC suggested an abnormal peak. Abnormal hemoglobins were identified by Sanger sequencing. Results In this study,the rate of abnormal hemoglobin in the diabetes screening population of Xi'an region was 0.096％ (28/30356). A total of 7 types of abnormal hemoglobins were detected:Hb E (n=10),G-Coushatta (n=6),Hb G-Taibei(n=6),Hb Q-Thailand (n=2),Hb North Manchester (n=2),Hb Ottawa (n=1) and Hb Queens (n=1). One case was Hb G-Taipei combined with IVS Ⅱ-659_664 (-GCAATA),the first report in the world. The abnormal hemoglobin phenotypes were normal except for seven cases of Hb E. Except for Hb G-Coushatta and Hb Ottawa,which did not interfere with the glycation test,the other five abnormal hemoglobins affected the glycation test results. Conclusion There is a certain prevalence rate of abnormal hemoglobin in the diabetes screaning population of Xi'an,mainly Hb E,Hb G-Taibei and Hb G-Coushatta. Most abnormal hemoglobins present normal phenotypes,but they could interfere with glycation test results.
