Study of the genotypic and hematological feature of hemoglobin H disease in West Guangxi area.
10.3760/cma.j.cn511374-20200219-00091
- VernacularTitle:桂西地区遗传性血红蛋白H病基因变异类型及其血液学特征的研究
- Author:
Xuejuan NONG
1
;
Guidan XU
;
Jia LI
;
Juhua LIANG
;
Shimao ZHONG
;
Chunhong LIU
;
Chunfang WANG
Author Information
1. Affiliated Hospital of Youjiang Minzu Medical College, Baise, Guangxi 533000, China. 578457776@qq.com.
- Publication Type:Journal Article
- MeSH:
China/epidemiology*;
Genotype;
Humans;
Mutation;
Prevalence;
alpha-Thalassemia/pathology*;
beta-Thalassemia/genetics*
- From:
Chinese Journal of Medical Genetics
2020;37(12):1326-1330
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the incidence, genotype and hematological feature of hemoglobin H (HbH) disease in West Guangxi region.
METHODS:A total of 1246 patients diagnosed with HbH disease from January 2013 to December 2018 in our hospital were enrolled. Red blood cell parameters, hemoglobin electrophoresis, Gap-polymerase china reaction (Gap-PCR) and polymerase chain reaction-reverse dot blot (PCR-RDB) techniques were used to detect the 6 common α-thalassemia mutations and 17 common β-thalassemia mutations. The results were compared with those of other regions.
RESULTS:The detection rate for HbH disease was 5.66%. Among the 1246 patients, 614 (49.28%) had deletion-type HbH disease, including -α
CONCLUSION:The prevalence of HbH disease is high in West Guangxi region, and the main genotypeis non-deletion. α
