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A Prospective Multi-Center Newborn Screening for Thalassemia by Comprehensive Analysis of Thalassemia Alleles (CATSA)
Aihua Xia1, Hongfei Chen2, Fuhua Lu3
1Obstetrics and Gynecology, The Ninth Affiliated Hospital of Guangxi Medical University, Beihai 536006, China.
Insights
Thalassemia screening in 3671 newborns in Guangxi identified 26.04% carriers using SMRT sequencing. This early detection of thalassemia variants, including intermedia forms, aids precision prevention.
Area of Science:
- Medical Genetics
- Molecular Diagnostics
- Public Health Genomics
Background:
- Thalassemia is a prevalent inherited blood disorder in Guangxi, China.
- Early neonatal screening is crucial for managing and treating thalassemia effectively.
- Existing diagnostic methods may misdiagnose certain thalassemia types.
Purpose of the Study:
- To characterize the spectrum of thalassemia gene variants in newborns in Guangxi.
- To evaluate the utility of single molecule real-time (SMRT) sequencing for neonatal thalassemia screening.
- To facilitate early identification and precision prevention of thalassemia.
Main Methods:
- Prospective recruitment of 3671 newborns from multiple centers in Guangxi.
- Screening for thalassemia using single molecule real-time (SMRT) sequencing technology.
- Identification and classification of globin gene variants.
Main Results:
- 36 types of globin gene variants (16 common, 20 rare) were identified.
- A total of 956 newborns (26.04%) were identified as thalassemia carriers.
- Specific carrier rates included 18.31% for α-thalassemia, 6.21% for β-thalassemia, and 1.50% for combined α/β-thalassemia.
- 12 cases of hemoglobin H disease and 2 cases of intermedia β-thalassemia were detected, with potential misdiagnosis by conventional methods.
Conclusions:
- SMRT sequencing is a powerful tool for comprehensive neonatal thalassemia screening.
- This study characterized the diversity of thalassemia variants in Guangxi newborns.
- Early identification of thalassemia, particularly intermedia forms, enables precision prevention strategies.
Abstract:
Thalassemia is one of the most common inherited diseases in Guangxi, China. Early identification of thalassemia by neonatal screening is beneficial for effective clinical management and treatment. A total of 3671 newborns from multiple centers of Guangxi were prospectively recruited and screened for thalassemia using single molecule real-time (SMRT) sequencing technology. A total of 36 types of variants of globin genes were identified, including 16 common variants and 20 rare variants in the Chinese population. In total, 956 (26.04%) newborns were identified to carry thalassemia variants, including 672 (18.31%) α-thalassemia, 228 (6.21%) β-thalassemia, 55 (1.50%) combined α/β-thalassemia and 1 (0.03%) δ-thalassemia. In addition, this study showed that the carrier rates of structural variants of α-globin genes and abnormal hemoglobin variants were 1.28% and 0.93% respectively. Phenotypically, 12 newborns with hemoglobin H disease and 2 cases with intermedia β-thalassemia were found, two of whom would be misdiagnosed by conventional genetic analysis methods. Collectively, this study characterized the complexity and diversity of thalassemia gene variants in newborns of Guangxi, and further achieved early identification of newborns with intermedia thalassemia, which facilitated precision prevention of thalassemia in this region. Also, SMRT provided a powerful tool for neonatal thalassemia screening, especially in prevalent regions.
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