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
em Zh
| WPRIM
| ID: wpr-879511
Biblioteca responsável:
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.
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Fenótipo
/
Tailândia
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Hemoglobinas Anormais
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Talassemia beta
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Heterozigoto
Tipo de estudo:
Prognostic_studies
Limite:
Female
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Humans
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Male
País/Região como assunto:
Asia
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2021
Tipo de documento:
Article