Screening, genetic analysis, and clinical transfusion implications of thalassaemia and glucose-6-phosphate dehydrogenase deficiency in blood donors.

Abstract

Background: This study aims to explore the prevalence, genotypes, and clinical applications of thalassaemia and glucose-6-phosphate dehydrogenase (G6PD) deficiency among blood donors, offering scientific support for the safety of clinical blood transfusions.

Materials and methods: Haematological and G6PD enzyme activity tests were conducted on 1028 blood donors from one coastal city in southern China. A detailed genotypic analysis was performed on samples potentially carrying thalassaemia and G6PD deficiency, and their clinical significance was subsequently explored.

Results: Among 1028 blood donors, 137 individuals were found to carry the thalassaemia gene (13.33%). The specific distribution is as follows: 111 cases of α-thalassaemia (10.80%), 21 cases of β-thalassaemia (2.04%), and five cases with both α- and β-thalassaemia (0.49%). The -^SEA/αα genotype was the most common thalassaemia genotype (8.17%). Additionally, 121 individuals (11.77%) carried the G6PD deficiency gene, with the c.1388G>A variant being the most prevalent (3.7%). Compared to recipients of blood from normal donors, patients who received transfusions from donors with thalassaemia or G6PD deficiency did not exhibit significant differences in the risk of adverse reactions or the extent of haemoglobin concentration elevation.

Conclusion: The -^SEA/αα genotype is the most prevalent in α-thalassaemia, while c.1388G>A is the most common genetic variant in G6PD deficiency. Individuals with G6PD deficiency exhibit higher MCV and MCH values. Additionally, blood donated by carriers of thalassaemia or G6PD deficiency does not increase the risk of adverse transfusion reactions. The transfusion of blood from donors with thalassaemia or G6PD deficiency showed no significant difference in haemoglobin elevation compared to that from normal donors.