Aims The present study aims to investigate the mutation spectrum of thalassaemia, and characterise the erythrocyte indices of thalassaemia in a large cohort in Sichuan, which is a province with a high prevalence of thalassaemia in southern China.
Methods The present study was conducted from July 2017 to July 2019. A total of 42 155 women screened for thalassaemia were enrolled. The thalassaemia carriers were screened by erythrocyte analysis and haemoglobin electrophoresis. Then, the screening test results and genetic results were collected.
Results A total of 1109 individuals had thalassaemia gene defects. Among these individuals, 69.7% were α-thalassaemia (α-thal) and 28.6% were β-thalassaemia (β-thal). For α-thal defects, carriers with --SEA had the lowest mean corpuscular volume (MCV) and mean corpuscular haemoglobin (MCH) values. For β-thal defects, carriers with heterozygous haemoglobin E and −28 had the highest MCV and MCH values. In addition, an MCV cut-off of 80 fl and an MCH cut-off of 27 pg was able to detect 99.1% α0 thalassaemia and 99.7% β0/β+ thalassaemia; however, that criterion could result in a great number of false-negative results in α+ carriers.
Conclusion A criterion of MCV <80 fl and MCH <27 pg is recommended for detecting –SEA carriers and β0/β+ carriers, while higher cut-offs are needed to detect α+ carriers.
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Handling editor Mary Frances McMullin.
Contributors Research conception and study design: BL and JM. Research and data analysis: BL, JM and XH. Manuscript preparation: BL and XH. Clinical data collection: BL, XH and JM. Research sample preparation: DY. All authors have read the journal’s authorship agreement and agree with the statements. Each author contributed important intellectual content during manuscript drafting or revision, and accepts accountability for the overall work by ensuring that questions pertaining to the accuracy or integrity of any portion of the work are appropriately investigated and resolved.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent for publication Obtained.
Ethics approval All clinical samples and data were collected for routine patient care. This retrospective study was done in accordance with the ethical standards of the Ethics Committees of Sichuan Jinxin Women and Children’s Hospital.
Provenance and peer review Not commissioned; externally peer reviewed.
Data availability statement All data relevant to the study are included in the article or uploaded as online supplementary information.