Analysis of thalassemia gene test results among pregnant women in Ningde City of Fujian Province
10.3760/cma.j.issn.2095-4255.2019.08.004
- VernacularTitle:福建宁德地区孕妇地中海贫血基因检测结果分析
- Author:
Fenrui FU
1
;
Yunjuan PENG
;
Wen ZHONG
;
Wei CHEN
Author Information
1. 福建省宁德市医院检验科 352000
- Keywords:
Pregnant women;
Thalassemia;
Prenatal diagnosis;
Genotype
- From:
Chinese Journal of Endemiology
2019;38(8):619-622
- CountryChina
- Language:Chinese
-
Abstract:
Objective To learn the gene types and classification of α-and β-thalassemia of pregnant women in Ningde City of Fujian Province,to investigate the morbidity of the thalassemia in Ningde City,and to prevent the birth of children with thalassemia.Methods A prospective study was used,pregnant women who took the pregnancy check-ups in Ningde Municipal Hospital from October 2016 to August 2018 were observed,venous blood samples were collected and blood cell analysis was performed based on routine blood examination.Pregnant women with microcyte hypochromic,excluded other causes,were did thalassemia genetic testing.αt-and β-thalassemia genotypes were detected using polymerase chain reaction (PCR) combined with reverse dot blot hybridization (RDB).Results Totally 39 890 pregnant women were examined,1 427 of them were presented with microcyte hypochromic,accounting for 3.58％.Among the 1 427 pregnant women,a total of 343 were screened for thalassemia genes,and 239 of them were diagnosed with thalassemia,accounting for 69.68％.Totally 146 cases of α-thalassemia were detected,accounting for 42.57％,7 genotypes were detected,among which the most common genotypes were as follows:-SEA/αα (117 cases),-α3.7/αα (16 cases),-α4.2/αα (5 cases),ααQS/αα (3 cases),ααhs/αα (3 cases),-α37/-α42 (1 case),and--SEA/-α4.2 (1 case).Totally 88 cases of β-thalassemia were detected,accounting for 25.66％,7 genotypes were detected,among which the most common genotypes were as follows:IVS-Ⅱ-654/N (39 cases),CD41-42/N (32 cases),CD17/N (7 cases),CD27-28/N (3 cases),-28/N (2 cases),CD43/N (2 cases),and βE/N (2 cases).Totally 5 cases were detected on α-β complex thalassaemia with one case of each:--SEA/αα,CD17/N;-α3.7/-α3.7,CD41-42/N;--SEA/αα,IVS-Ⅱ-654/N;-α3.7/αα,IVS-Ⅱ-654/N;and-α3.7/αα,βE/N.Conclusions In Ningde City,the prevalence of thalassemia in pregnant women is high,--srA/αα genotype is the most common type of α-thalassemia,and IVS-Ⅱ-654/N genotype is the most common type of [3-thalassemia.Therefore,we should strengthen the publicity of knowledge about thalassemia to women of child-bearing age,pay attention to the prenatal examination and diagnosis of thalassemia in pregnant women,and prevent the birth of infants with heavy thalassemia from the beginning.
