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This is an early access version, the complete PDF, HTML, and XML versions will be available soon.
Article

A Prospective Multi-Center Newborn Screening for Thalassemia by Comprehensive Analysis of Thalassemia Alleles (CATSA) Based on Single Molecule Real-Time Sequencing in Guangxi, China

by
Aihua Xia
1,†,
Hongfei Chen
2,†,
Fuhua Lu
3,†,
Ping Xu
1,
Peixiao Shen
3,
Wei Wei
4,5,
Chunrong Gui
4,5,
Juliang Liu
4,5,
Dan Wei
4,5,
Haipeng Qin
4,5,
Yan Huang
2,6,*,
Ju Long
7,* and
Baoheng Gui
2,4,5,*
1
Obstetrics and Gynecology, The Ninth Affiliated Hospital of Guangxi Medical University, Beihai 536006, China
2
The Second School of Medicine, Guangxi Medical University, Nanning 530007, China
3
Obstetrics and Gynecology, Qinzhou Maternal and Child Health Care Hospital, Qinzhou 535099, China
4
Center for Medical Genetics and Genomics, The Second Affiliated Hospital of Guangxi Medical University, Nanning 530007, China
5
The Guangxi Health Commission Key Laboratory of Medical Genetics and Genomics, The Second Affiliated Hospital of Guangxi Medical University, Nanning 530007, China
6
Department of Obstetrics, The Second Affiliated Hospital of Guangxi Medical University, Nanning 530007, China
7
Laboratory of Medical Genetics, Qinzhou Maternal and Child Health Care Hospital, Qinzhou 535099, China
*
Authors to whom correspondence should be addressed.
†
These authors contributed equally to this work.
Int. J. Neonatal Screen. 2026, 12(2), 37; https://doi.org/10.3390/ijns12020037
Submission received: 22 December 2025 / Revised: 19 March 2026 / Accepted: 19 May 2026 / Published: 22 May 2026
Review Reports Versions Notes

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.
Keywords: thalassemia; prevention and control; newborn screening; SMRT; prospective study; multi-center thalassemia; prevention and control; newborn screening; SMRT; prospective study; multi-center

Share and Cite

MDPI and ACS Style

Xia, A.; Chen, H.; Lu, F.; Xu, P.; Shen, P.; Wei, W.; Gui, C.; Liu, J.; Wei, D.; Qin, H.; et al. A Prospective Multi-Center Newborn Screening for Thalassemia by Comprehensive Analysis of Thalassemia Alleles (CATSA) Based on Single Molecule Real-Time Sequencing in Guangxi, China. Int. J. Neonatal Screen. 2026, 12, 37. https://doi.org/10.3390/ijns12020037

AMA Style

Xia A, Chen H, Lu F, Xu P, Shen P, Wei W, Gui C, Liu J, Wei D, Qin H, et al. A Prospective Multi-Center Newborn Screening for Thalassemia by Comprehensive Analysis of Thalassemia Alleles (CATSA) Based on Single Molecule Real-Time Sequencing in Guangxi, China. International Journal of Neonatal Screening. 2026; 12(2):37. https://doi.org/10.3390/ijns12020037

Chicago/Turabian Style

Xia, Aihua, Hongfei Chen, Fuhua Lu, Ping Xu, Peixiao Shen, Wei Wei, Chunrong Gui, Juliang Liu, Dan Wei, Haipeng Qin, and et al. 2026. "A Prospective Multi-Center Newborn Screening for Thalassemia by Comprehensive Analysis of Thalassemia Alleles (CATSA) Based on Single Molecule Real-Time Sequencing in Guangxi, China" International Journal of Neonatal Screening 12, no. 2: 37. https://doi.org/10.3390/ijns12020037

APA Style

Xia, A., Chen, H., Lu, F., Xu, P., Shen, P., Wei, W., Gui, C., Liu, J., Wei, D., Qin, H., Huang, Y., Long, J., & Gui, B. (2026). A Prospective Multi-Center Newborn Screening for Thalassemia by Comprehensive Analysis of Thalassemia Alleles (CATSA) Based on Single Molecule Real-Time Sequencing in Guangxi, China. International Journal of Neonatal Screening, 12(2), 37. https://doi.org/10.3390/ijns12020037

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