Analysis of phenotypes of Hb J-Bangkok and concomitant thalassemia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 7-11, 2021.
Article
in Zh
| WPRIM
| ID: wpr-879511
Responsible library:
WPRO
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.
Full text:
1
Index:
WPRIM
Main subject:
Phenotype
/
Thailand
/
Hemoglobins, Abnormal
/
Beta-Thalassemia
/
Heterozygote
Type of study:
Prognostic_studies
Limits:
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article