Screening, genotyping and haematological analysis of glucose-6-phosphate dehydrogenase deficiency in the blood donors of Wuxi City, China.

IF 1.8 4区医学 Q3 HEMATOLOGY Vox Sanguinis Pub Date : 2024-10-01 Epub Date: 2024-07-05 DOI:10.1111/vox.13708

Jianhuai Jin, Jian Jiang, Youshan Xu, Li Gao, Wenhui Sun, Ruixin Jiang, Jing Gao

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Abstract

Background and objectives: To investigate the prevalence, genotype and haematological characteristics of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the blood donor population of Wuxi area (Jiangsu Province, China) and to assess the impact of their red blood cell (RBC) units on clinical transfusion.

Materials and methods: We conducted genotyping and large-scale screening for G6PD enzyme activity in the blood donors of Wuxi City. In addition, we assessed the haematological parameters of G6PD-deficient and non-deficient blood donors, and investigated the adverse transfusion reactions in patients transfused with G6PD-deficient blood.

Results: We investigated 17,113 blood donors, among whom 44 (0.26%) were tested positive for G6PD deficiency. We identified 40 G6PD gene variants, among which c.1388G>A, c.1376G>T, c.1024C>T and c.95A>G were common. In addition, we identified two novel G6PD gene variants, c.1312G>A and c.1316G>A. The G6PD-deficient and non-deficient blood samples showed a significant difference in the RBC, mean corpuscular volume (MCV), mean corpuscular Hb (MCH), RBC distribution width, total bilirubin (TBIL), direct bilirubin (DBIL) and indirect bilirubin (IBIL) values. However, the two samples showed no significant difference in the haemolysis rate at the end of the storage period. Finally, transfusion with G6PD-deficient RBC units did not lead to any adverse transfusion reactions.

Conclusion: The positive rate of G6PD deficiency in the blood donor population of Wuxi City is 0.26%, and the genetic variants identified in this population are consistent with the common genetic variants observed in the Chinese population. Blood centres can establish a database on G6PD-deficient blood donors and mark their RBC units to avoid their use for special clinical patients.

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中国无锡市献血者葡萄糖-6-磷酸脱氢酶缺乏症的筛查、基因分型和血液学分析。

背景和目的调查无锡地区（中国江苏省）献血人群中葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症的患病率、基因型和血液学特征，并评估其红细胞（RBC）单位对临床输血的影响：我们对无锡市的献血者进行了 G6PD 酶活性基因分型和大规模筛查。此外，我们还评估了 G6PD 缺乏和非 G6PD 缺乏献血者的血液学指标，并调查了输注 G6PD 缺乏血液的患者的输血不良反应：我们对 17113 名献血者进行了调查，其中 44 人（0.26%）的 G6PD 缺乏检测呈阳性。我们发现了 40 个 G6PD 基因变异，其中常见的有 c.1388G>A、c.1376G>T、c.1024C>T 和 c.95A>G。此外，我们还发现了两个新的 G6PD 基因变异：c.1312G>A 和 c.1316G>A。G6PD 缺陷血样和非缺陷血样的红细胞、平均血球容积（MCV）、平均血球 Hb（MCH）、红细胞分布宽度、总胆红素（TBIL）、直接胆红素（DBIL）和间接胆红素（IBIL）值均有显著差异。不过，两种样本在储存期结束时的溶血率没有明显差异。最后，输注 G6PD 缺乏的红细胞单位不会导致任何不良输血反应：结论：无锡市献血人群中 G6PD 缺乏症的阳性率为 0.26%，在该人群中发现的基因变异与在中国人群中观察到的常见基因变异一致。血液中心可建立 G6PD 缺乏症献血者数据库，并对其红细胞单位进行标记，避免将其用于临床特殊患者。

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来源期刊

Vox Sanguinis 医学-血液学

CiteScore

4.40

自引率

11.10%

发文量

156

审稿时长

6-12 weeks

期刊介绍： Vox Sanguinis reports on important, novel developments in transfusion medicine. Original papers, reviews and international fora are published on all aspects of blood transfusion and tissue transplantation, comprising five main sections: 1) Transfusion - Transmitted Disease and its Prevention: Identification and epidemiology of infectious agents transmissible by blood; Bacterial contamination of blood components; Donor recruitment and selection methods; Pathogen inactivation. 2) Blood Component Collection and Production: Blood collection methods and devices (including apheresis); Plasma fractionation techniques and plasma derivatives; Preparation of labile blood components; Inventory management; Hematopoietic progenitor cell collection and storage; Collection and storage of tissues; Quality management and good manufacturing practice; Automation and information technology. 3) Transfusion Medicine and New Therapies: Transfusion thresholds and audits; Haemovigilance; Clinical trials regarding appropriate haemotherapy; Non-infectious adverse affects of transfusion; Therapeutic apheresis; Support of transplant patients; Gene therapy and immunotherapy. 4) Immunohaematology and Immunogenetics: Autoimmunity in haematology; Alloimmunity of blood; Pre-transfusion testing; Immunodiagnostics; Immunobiology; Complement in immunohaematology; Blood typing reagents; Genetic markers of blood cells and serum proteins: polymorphisms and function; Genetic markers and disease; Parentage testing and forensic immunohaematology. 5) Cellular Therapy: Cell-based therapies; Stem cell sources; Stem cell processing and storage; Stem cell products; Stem cell plasticity; Regenerative medicine with cells; Cellular immunotherapy; Molecular therapy; Gene therapy.