Analysis of phenotypes of Hb J-Bangkok and concomitant thalassemia.
10.3760/cma.j.cn511374-20191031-00550
- Author:
Yumin LI
1
;
Qinquan CAI
;
Xiao JIN
;
Junlong QIN
;
Yaqiong CHEN
;
Rui LI
;
Yunjun MO
;
Xiuming ZHANG
Author Information
1. Department of Laboratory Medicine, Luohu District People's Hospital, Shenzhen, Guangdong 518001, China. zxm0760@163.com.
- Publication Type:Journal Article
- MeSH:
Female;
Hemoglobins, Abnormal/genetics*;
Heterozygote;
Humans;
Male;
Phenotype;
Thailand;
beta-Thalassemia/genetics*
- From:
Chinese Journal of Medical Genetics
2021;38(1):7-11
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the hematological phenotypes of Hb J-Bangkok and concomitant thalassemia.
METHODS:In total 72 397 samples were screened by using capillary electrophoresis. Samples with Hb J-Bangkok were identified by DNA sequencing and analysis of red blood cell parameters. Gap-PCR and PCR-reverse dot blotting (PCR-RDB) were used for analyzing the thalassemia genes.
RESULTS:Thirty one cases of Hb J-Bangkok were identified, all of which were heterozygotes. The hematological phenotype index (Hb, mean corpuscular volume, mean corpuscular hemoglobin, Hb J-Bangkok, Hb A
CONCLUSION:Hb J-Bangkok heterozygotes have normal hematological phenotypes, though they may show different hematological characteristics when concomitant with different types of thalassemia, for which genetic counseling should be provided accordingly.
