Full
Outline
To understand the prenatal screening results and genotype distribution features of thalassemia among pregnant women in Zunyi area, and to provide a scientific basis for the development and optimization of thalassemia prevention and control strategies.
A retrospective analysis was conducted on the clinical data of 1 876 pregnant women who underwent prenatal check-ups at the First People’s Hospital of Zunyi from February 2023 to September 2023. All 1 876 pregnant women were initially screened for thalassemia using red blood cell indices and hemoglobin electrophoresis. Thalassemia gene detection based on third-generation sequencing technology was performed for screening-positive pregnant women and 228 voluntarily tested screening-negative pregnant women. The positive rate of thalassemia screening, the rate of genetic diagnosis and the distribution features of genotypes were analyzed.
Among 1 876 pregnant women, 178 cases (9.49%) were positive for thalassemia screening, and 67 cases (37.64%) were diagnosed with thalassemia through genetic testing, including 41 cases of α-thalassemia and 26 cases of β-thalassemia. A total of 228 pregnant women with negative thalassemia screening voluntarily underwent thalassemia gene testing, and 14 cases of thalassemia carriers were detected (with a carrier rate of 6.14%), all of whom were α-thalassemia carriers. A total of 55 cases (67.90%) of α-thalassemia and 26 cases (32.10%) of β-thalassemia were detected in this study, and the carrier rate of α-thalassemia was higher than that of β-thalassemia. Among them, the main genotypes of α-thalassemia were --SEA/αα (30.91%) and -α3.7/αα (27.27%). The main genotypes of β-thalassemia were CD17/N (38.46%) and CD41-42/N (26.92%).
The carrier rate of thalassemia among pregnant women in Zunyi area is relatively high, with α-thalassemia being predominant. The main genotypes are --SEA/αα (α-thalassemia), -α3.7/αα (α-thalassemia), CD17/N (β-thalassemia), and CD41-42/N (β-thalassemia), and a certain proportion of missed cases in the initial screening and rare genotypes were observed.
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| 科 Family | 属数 Number of genus | 种数 Number of species | 占总种数比例 Percentage of total species (%) | 属 Genus | 种数 Number of species | 占总种数比例 Percentage of total species (%) |
|---|---|---|---|---|---|---|
| 鹅膏菌科Amanitaceae | 2 | 11 | 5.26 | 鹅膏菌属 Amanita | 10 | 4.78 |
| 小菇科 Mycenaceae | 2 | 12 | 5.74 | 丝盖伞属 Inocybe | 5 | 2.39 |
| 多孔菌科 Polyporaceae | 8 | 14 | 6.70 | 蜡蘑属 Laccaria | 5 | 2.39 |
| 红菇科 Russulaceae | 3 | 23 | 11.00 | 小皮伞属 Marasmius | 6 | 2.87 |
| 小菇属 Mycena | 11 | 5.26 | ||||
| 光柄菇属 Pluteus | 5 | 2.39 | ||||
| 红菇属 Russula | 17 | 8.13 | ||||
| 栓菌属 Trametes | 5 | 2.39 |
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