Analysis of Gene Mutation Types in 141 Cases of α-Thalassemia in Honghe Prefecture, Yunnan Province / 中国实验血液学杂志
Journal of Experimental Hematology
;
(6): 596-620, 2021.
Artigo
em Chinês
| WPRIM
| ID: wpr-880119
ABSTRACT
OBJECTIVE@#To detecte the carrying rate, the type and distribution of α-Thalassemia gene mutation in Honghe Prefecture, Yunnan Province, and analyze the differences in average erythrocyte volume (MCV), mean erythrocyte hemoglobin content (MCH) and hemoglobin among different types of α-Thalassemia.@*METHODS@#The DNA samples from small cell hypochromic carriers or anemia patients and women of childbearing age who underwent hematological screening in The First People's Hospital of Honghe State was from 2015 to 2019 were enrolled and analyzed, and the mutation types and frequency of alpha-thalassemia positive rate were diagnosed by PCR reverse dot blot or PCR fluorescence dissolution curve.@*RESULTS@#Among the 1 016 samples, 141(13.88%) of the patients were diagnosed as α-thalassemia. The α-thalassemia was subdivided into 3 types, silent (36.17%), minor (51.77%), and HbH disease (12.06%), and the MCV, MCH and HB levels were detected and showed a obvious decrease trend with significant difference (P < 0.05). The gene mutation types were 9 kinds, the deletion type gene was mainly --SEA (51.06%), followed by -α@*CONCLUSION@#Alpha-thalassemia in Honghe prefecture of Yunnan Province shows complex genetic diversity and significant genetic heterogeneity, and the mainly type of gene mutation is --SEA and --
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
China
/
Talassemia beta
/
Talassemia alfa
/
Genótipo
/
Heterozigoto
/
Mutação
Limite:
Feminino
/
Humanos
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Journal of Experimental Hematology
Ano de publicação:
2021
Tipo de documento:
Artigo
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