Screening and genotyping of thalassemia in Ningbo
10.3760/cma.j.cn231583-20220429-00142
- VernacularTitle:宁波市地中海贫血筛查及基因分型
- Author:
Xiaoli PAN
1
;
Shuqing PAN
;
Youwei BAO
;
Lingli PAN
;
Haibo LI
Author Information
1. 宁波市妇女儿童医院出生缺陷综合防治实验室，宁波 315000
- Keywords:
Thalassemia;
Genotype;
Screening
- From:
Chinese Journal of Endemiology
2023;42(7):548-553
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To study the genotyping of thalassemia in Ningbo population and provide a reference basis for future prevention and control of thalassemia in Ningbo.Methods:Patients with suspected thalassemia attending Ningbo Women and Children's Hospital from January 2019 to March 2022 were selected for the study, and DNA was extracted from dried blood spot specimens by collecting peripheral blood, and detection of thalassemia hotspot variants was performed by fluorescence PCR melting curve analysis combined with Sanger sequencing or multiplex ligation-dependent probe amplification (MLPA).Results:A total of 2 680 cases were included in the patients with suspected thalassemia, and 1 426 cases of thalassemia gene carriers were detected, with an overall detection rate of 53.2%. Among them, 595 cases (41.7%) were α-thalassemia, with -- SEA/αα, αα/-α 3.7 and -- SEA/-α 3.7 being more common; 807 cases (56.6%) were β-thalassemia, with β IVS-Ⅱ-654/β N, β CD41-42/β N and β CD17/β N being more common; 24 cases (1.7%) were αβ-combined thalassemia. Among them, six rare variant types were included, including fusion gene (Fusion), -- FIL, HBA2:c.376C>T, CD8/9(+G), IVS-Ⅰ-2(T>C) and IVS-Ⅱ-1(G>A), all of which were reported for the first time in Ningbo. Conclusion:Among suspected thalassemia patients in Ningbo, the detection rate of thalassemia is high, and the types of gene variants are complex, so the awareness of thalassemia gene testing for anemic patients should be raised.
