Differential Diagnosis of Three Commonest Deletion β-Thalassemia in Chinese.
10.19746/j.cnki.issn.1009-2137.2021.04.035
- Author:
Ji-Cheng WANG
1
;
Cui-Ze YAO
1
;
Yan-Lin HUANG
1
;
Ling LIU
1
;
Teng-Long YUAN
1
;
Dan-Qing QIN
2
Author Information
1. Medical Genetics Center, Guangdong Women and Children Hospital, Maternal and Children Metabolic-Genetic Key Laboratory, Guangzhou 511442, Guangdong Province，China.
2. Medical Genetics Center, Guangdong Women and Children Hospital, Maternal and Children Metabolic-Genetic Key Laboratory, Guangzhou 511442, Guangdong Province，China,E-mail: qindanqing1985@163.com.
- Publication Type:Journal Article
- MeSH:
China;
Diagnosis, Differential;
Fetal Hemoglobin;
Humans;
Mutation;
Thalassemia;
beta-Thalassemia/genetics*
- From:
Journal of Experimental Hematology
2021;29(4):1247-1250
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the hematological characteristics of Chinese
METHODS:Hemoglobin electrophoresis and blood routine test were used to analyze the hematological indexes of all peripheral blood samples，PCR-Flow fluorescent hybridization and Gap-PCR were used to detect the globin gene mutations and the data were analyzed statistically.
RESULTS:The 3 types of deletion β- Thalassemia patients were showed as hypochromic small cell anemia. The MCH and MCV values of Taiwan type β-thalassemia patients were the lowest. The results of hemoglobin electrophoresis showed that the increasing of HbF was found in all of the 3 types. Except for the decreasing of Hb A2 in Chinese
CONCLUSION:Through analyze the hematological characteristics, it can be provide that the guidance for the differential diagnosis and genetic consultation of the three commonest deletion β-thalassemia in Chinese.
