Hematologic Phenotype and Genotype Analysis of Patients with Hemoglobin Variants.
10.19746/j.cnki.issn.1009-2137.2021.04.042
- Author:
Ye-Fei WANG
1
;
Bei-Ying WU
2
;
Wen-Quan XIA
1
;
Ning CHEN
1
;
Yi-Qun HU
3
Author Information
1. Faculty of Medical Laboratory Science,Ruijin Hospital, Shanghai Jiao Tong University School of Medicine.
2. Department of Clinical Laboratory, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine.
3. Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China E-mail: ichunhu@126.com.
- Publication Type:Journal Article
- MeSH:
China;
Genotype;
Hemoglobins, Abnormal/genetics*;
Humans;
Phenotype;
alpha-Thalassemia;
beta-Globins/genetics*
- From:
Journal of Experimental Hematology
2021;29(4):1280-1288
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To study the hematologic and molecular features of 14 patients with hemoglobin (Hb) variants, so as to provide reference data for its laboratory screening.
METHODS:A total of 1 029 samples were screened by high performance liquid chromatography (HPLC) on the Bio-Rad VariantⅡHPLC system. GAP-PCR and reverse dot blot (RDB) were used to detect common mutation of α and β globin gene in Chinese. DNA sequencing for α and β globin gene was simultaneously performed in samples with abnormal spectrum peak and negative thalassemia gene.
RESULTS:In 1 029 samples, 10 types of structural Hb variants were detected in14 cases (1.36%), including 1 case of Hb E / β- thalassemia, 1 case of Hb E /α- thalassemia (HbH disease), 2 cases of HbG-Taipei, 2 cases of Hb Q-Thailand, 2 cases of Hb Youngstown, 1 case of Hb Guangzhou-Hangzhou, 1 case of Hb M-Boston, 1 case of Hb G-Siriraj, 1 case of Hb J-Baltimore, 1 case of Hb J-Sicilia and 1 case of Hb Tamano.
CONCLUSION:The occurrence of abnormal structural Hb variants with many genotypes in Shanghai is unique. Except for Hb E, Hb Youngstown, and Hb M-Boston, other types of heterozygous are normal in phenotypes, and symptoms such as hemolysis and anemia often occur when other diseases are combined.
