Characteristics of Silent Alpha Thalassemia Gene in Child-Bearing Adults in Guangdong.
10.19746/j.cnki.issn.1009-2137.2023.06.032
- Author:
Ge HUANG
1
,
2
;
You-Wei ZHENG
3
;
Ji WU
3
;
Sheng-Nan LIU
3
Author Information
1. Department of Clinical Laboratory Examination, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, Guangdong Province, China.E-mail: hwangge@
2. com.
3. Department of Clinical Laboratory Examination, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, Guangdong Province, China.
- Publication Type:Journal Article
- Keywords:
child-bearing adult;
genotype detection;
silent α thalassemia
- MeSH:
Adult;
Pregnancy;
Female;
Humans;
alpha-Thalassemia/diagnosis*;
Genotype;
Mutation;
Erythrocyte Indices;
Polymerase Chain Reaction;
China;
beta-Thalassemia/genetics*
- From:
Journal of Experimental Hematology
2023;31(6):1811-1814
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To investigate characteristics of silent alpha thalassemia genes in child-bearing adults in Guangdong, in order to provide data for the prevention and control of hemoglobin H disease.
METHODS:A total of 8 752 cases were collected from January 2016 to December 2020. Gap-PCR was used to detect the deletional of α-thalassemia mutations (-α3.7, -α4.2), while PCR reverse dot blot hybridization assay (RDB) was used to detect the non-deletional α-thalassemia mutations (Hb CS, Hb QS and Hb Westmead).
RESULTS:Among 8 752 subjects, 717 cases of silent α-thalassemia were detected, the detection rate was 8.19%, including 555 cases of deletional α-thalassemia (77.41%) and 162 cases of non-deletional α-thalassemia 22.59%. The mean corpuscular volume (MCV) of deletional silent α-thalassemia was (82.09±4.10) fl, and mean corpuscular hemoglobin (MCH) was (27.03±1.37) pg, which both were over the diagnostic cut-off value for thalassemia. The MCV of non-deletional silent α-thalassemia was (81.07±4.93) fl, and MCH was (26.77±2.20) pg. According to the diagnostic criteria, if using MCV<82 fl or (and) MCH<27 pg as a positive criteria for screening thalassemia in the childbearing age, the screening sensitivity was 53.14% and different in different genotype, among which ααQS/αα was 100%, -α3.7/αα, -α4.2/αα, ααCS/αα and ααWS/αα was 62.15%, 63.41%, 44.83% and 39.62%, respectively. Namely, nearly half the carriers of such mutations might have escaped detection as a result of their screening strategy.
CONCLUSION:When a couple is preparing for pregnancy, if one of them has been determined to be mild α-thalassemia or hemoglobin H disease, other half is necessary to carry out silent α thalassemia detection to prevent the birth of children with hemoglobin H disease even if MCV>82 fl and MCH>27 pg.
