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.
Artigo
em Chinês
| WPRIM
| ID: wpr-879511
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Tailândia
/
Hemoglobinas Anormais
/
Talassemia beta
/
Heterozigoto
Tipo de estudo:
Estudo prognóstico
Limite:
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2021
Tipo de documento:
Artigo
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