ABSTRACT
Objective:To study the genetic variation and distribution characteristics of thalassemia in people of childbearing age in Hubei Province, and to provide clinical basis for the local government decision-making departments to formulate and promote appropriate policies for prevention and control of thalassemia.Methods:Venous blood samples were collected from 44 849 people of childbearing age in hospitals in Hubei Province from May 13, 2019 to August 17, 2021. PCR-flow fluorescence hybridization and PCR+diversion hybridization were used to screen thalassemia genes. Spouses of those who tested positive were also tested for thalassemia genes. When both spouses carried the same type of thalassemia gene, the amniotic fluid of pregnant women was extracted for prenatal diagnosis and followed up.Results:Among the 44 849 people of childbearing age, 2 286 cases were diagnosed as thalassemia gene carriers through genetic testing, and the total detection rate was 5.10% (2 286/44 849). Among them, 1 488 cases were diagnosed as α-thalassemia, and the detection rate was 3.32% (1 488/44 849); 767 cases were diagnosed as β-thalassemia, and the detection rate was 1.71% (767/44 849); 31 cases were diagnosed as α-thalassemia combined with β-thalassemia, and the detection rate was 0.07% (31/44 849). The top three genotypes of α-thalassemia were -α 3.7/αα, -- SEA/αα, and -α 4.2/αα, accounting for 58.06% (864/1 488), 26.14% (389/1 488), and8.74% (130/1 488), respectively. The top three genotypes of β-thalassemia were β IVS-Ⅱ-654/β N, β CD41-42/β N, and β CD17/β N, accounting for 41.72% (320/767), 21.25% (163/767), and 16.04% (123/767), respectively. The main genotypes of α-thalassemia combined with β-thalassemia were -α 3.7/αα complex β IVS-Ⅱ-654/β N and -α 3.7/αα complex β CD41-42/β N, accounting for 29.03% (9/31) and 16.13% (5/31), respectively. A total of 59 people of childbearing age were conducted prenatal diagnosis, among fetus, there were 4 cases of severe thalassemia (2 cases of severe α-thalassemia, 2 cases of severe β-thalassemia), 5 cases of intermediate α-thalassemia, 5 cases of intermediate or severe β-thalassemia, 19 cases of mild thalassemia (8 cases of mild α-thalassemia, 11 cases of mild β-thalassemia), 13 cases of stationary α-thalassemia, and 1 case of stationary α-thalassemia combined with mild β-thalassemia, there were 12 cases without α-thalassemia or β-thalassemia genes. After follow-up, 4 cases of severe thalassemia, 2 cases of intermediate α-thalassemia, and 5 cases of intermediate or severe β-thalassemia were terminated pregnancy by the joint decision of both parents. Conclusions:In Hubei Province, the detection rate of thalassemia is high, and α-thalassemia is the main mutation type. The combination of thalassemia gene screening and prenatal diagnosis is of great significance in reducing the birth rate of children with thalassemia.
ABSTRACT
Objective To investigate the prevalence of toxoplasma gondii (Tox),rubella virus (RV),cytomegalovirus (CMV) and herpes simplex virus (HSV) infections (TORCH infections) among childbearing-age population in Henan province.Methods Enzyme-linked immunosorbent assay (ELISA) was applied to detect plasma TORCH IgM and IgG among 3084 childbearing-age men and women from theFirst Affiliated Hospital of Zhengzhou University during July and September,2011.The positive rates of anti-TORCH antibodies were compared among the various age and gender groups by x2 test.Results The total positive rate of anti-TORCH IgM was 5.5％ (170/3084),in which the positive rate of anti-RV IgM was the highest (2.9％),followed by anti-HSV IgM (1.0％).Within positive rate of anti-TORCH IgG,anti-HSV IgG was the highest (90.4％),followed by anti-CMV IgG (89.7％),RV IgG (48.1％) and Tox IgG (0.7％).The positive rate of anti-TORCH IgM was the lowest in individuals aged ＞ 30-40 year old.With the age increasing,the positive rates of anti-Tox IgG,anti-CMV IgG and anti-HSV IgG increased,but the positive rate of anti-RV IgG decreased.Women had higher positive rates of anti-CMV IgG and antiHSV IgG than men (x2 =83.470 and 7.026,P ＜ 0.O1).Conclusions Current infection of TORCH exists in childbearing-age population of Henan province,and the positive rate of anti-RV IgG is low.It is recommended to screen for TORCH infection in childbearing-age men and women.
