Hematologic Phenotype and Genotype Analysis of Patients with Hemoglobin Variants / 中国实验血液学杂志
Journal of Experimental Hematology
; (6): 1280-1288, 2021.
Article
de Zh
| WPRIM
| ID: wpr-888553
Bibliothèque responsable:
WPRO
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.
Texte intégral:
1
Base de données:
WPRIM
Sujet principal:
Phénotype
/
Hémoglobines anormales
/
Chine
/
Alpha-Thalassémie
/
Globines bêta
/
Génotype
Limites:
Humans
Pays/Région comme sujet:
Asia
Langue:
Zh
Journal:
Journal of Experimental Hematology
Année:
2021
Type de document:
Article