{"title":"东亚和东南亚人群中弱或部分D表型个体的亚洲型DEL等位基因常规检测的必要性","authors":"Jizhi Wen, Xiaojie Ma, Shuangshuang Jia, Jingwang Chen, Ling Wei, Yanli Ji","doi":"10.1111/vox.70048","DOIUrl":null,"url":null,"abstract":"<p><strong>Background and objectives: </strong>Among the rare serologically D-negative (D-) individuals in Asia, those carrying the Asian-type DEL allele (RHD*DEL1) can be safely managed as D+ individuals during transfusion and pregnancy. Recently, some individuals carrying RHD*DEL1, who exhibit serologically weak/partial D phenotypes rather than the serologically D- phenotype, have also been described. Whether anti-D alloimmunization can occur among them was explored.</p><p><strong>Materials and methods: </strong>A retrospective study was carried out in 143 Chinese pregnant women identified as serologically weak/partial D phenotypes. The RHD*DEL1 allele was detected using the high-resolution melting method. Then, RHD genotyping was determined mainly by Sanger sequencing. D epitope expression was detected with the anti-D panel (D-Screen) by haemagglutination and adsorption/elution tests.</p><p><strong>Results: </strong>RHD*DEL1 allele carriers were identified in 42.0% (60/143) of weak/partial D women. The single genotypes (mainly RHD*DEL1/01N.01 or RHD*DEL1/DEL1, n = 52) and the compound heterozygous genotypes (RHD*DEL1/weak or partial D allele, n = 8) were detected. A complete repertoire of D epitopes was shown in six weak/partial D women who simultaneously carried the RHD*DEL1 allele. Alloanti-D was not observed among any carriers (0/60). In the remaining 78 weak/partial D samples available but not carrying RHD*DEL1, 24 types of RHD variant alleles, including six novel alleles, were detected.</p><p><strong>Conclusion: </strong>The RHD*DEL1 allele occurred often in the Chinese individuals with weak/partial D phenotypes who showed a lack of anti-D alloimmunization. Routine Asian-type DEL genotyping is recommended both in serologically D- and weak D/partial D individuals with East and Southeast Asian ancestry to consider Asian-type DEL carriers as D+ individuals during transfusion and pregnancy.</p>","PeriodicalId":23631,"journal":{"name":"Vox Sanguinis","volume":" ","pages":"714-722"},"PeriodicalIF":1.6000,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The need for routine detection of the Asian-type DEL allele in individuals with weak or partial D phenotypes from East and Southeast Asian populations.\",\"authors\":\"Jizhi Wen, Xiaojie Ma, Shuangshuang Jia, Jingwang Chen, Ling Wei, Yanli Ji\",\"doi\":\"10.1111/vox.70048\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background and objectives: </strong>Among the rare serologically D-negative (D-) individuals in Asia, those carrying the Asian-type DEL allele (RHD*DEL1) can be safely managed as D+ individuals during transfusion and pregnancy. Recently, some individuals carrying RHD*DEL1, who exhibit serologically weak/partial D phenotypes rather than the serologically D- phenotype, have also been described. Whether anti-D alloimmunization can occur among them was explored.</p><p><strong>Materials and methods: </strong>A retrospective study was carried out in 143 Chinese pregnant women identified as serologically weak/partial D phenotypes. The RHD*DEL1 allele was detected using the high-resolution melting method. Then, RHD genotyping was determined mainly by Sanger sequencing. D epitope expression was detected with the anti-D panel (D-Screen) by haemagglutination and adsorption/elution tests.</p><p><strong>Results: </strong>RHD*DEL1 allele carriers were identified in 42.0% (60/143) of weak/partial D women. The single genotypes (mainly RHD*DEL1/01N.01 or RHD*DEL1/DEL1, n = 52) and the compound heterozygous genotypes (RHD*DEL1/weak or partial D allele, n = 8) were detected. A complete repertoire of D epitopes was shown in six weak/partial D women who simultaneously carried the RHD*DEL1 allele. Alloanti-D was not observed among any carriers (0/60). In the remaining 78 weak/partial D samples available but not carrying RHD*DEL1, 24 types of RHD variant alleles, including six novel alleles, were detected.</p><p><strong>Conclusion: </strong>The RHD*DEL1 allele occurred often in the Chinese individuals with weak/partial D phenotypes who showed a lack of anti-D alloimmunization. Routine Asian-type DEL genotyping is recommended both in serologically D- and weak D/partial D individuals with East and Southeast Asian ancestry to consider Asian-type DEL carriers as D+ individuals during transfusion and pregnancy.</p>\",\"PeriodicalId\":23631,\"journal\":{\"name\":\"Vox Sanguinis\",\"volume\":\" \",\"pages\":\"714-722\"},\"PeriodicalIF\":1.6000,\"publicationDate\":\"2025-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Vox Sanguinis\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1111/vox.70048\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/5/19 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Vox Sanguinis","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/vox.70048","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/5/19 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"HEMATOLOGY","Score":null,"Total":0}
引用次数: 0
摘要
背景和目的:在亚洲罕见的血清学D阴性(D-)个体中,携带亚洲型DEL等位基因(RHD*DEL1)的个体在输血和妊娠期间可以作为D+个体进行安全管理。最近,一些携带RHD*DEL1的个体也被描述为血清学上表现为弱/部分D表型,而不是血清学上的D-表型。探讨抗- d异体免疫能否在其中发生。材料和方法:对143例血清学弱/部分D表型的中国孕妇进行回顾性研究。采用高分辨率熔融法检测RHD*DEL1等位基因。然后主要通过Sanger测序确定RHD基因分型。通过血凝和吸附/洗脱试验,用抗D面板(D- screen)检测D表位表达。结果:弱/偏D女性中RHD*DEL1等位基因携带者占42.0%(60/143)。单基因型(主要为RHD*DEL1/01N;检测到01或RHD*DEL1/DEL1, n = 52)和复合杂合基因型(RHD*DEL1/弱或部分D等位基因,n = 8)。在6名同时携带RHD*DEL1等位基因的弱/部分D女性中发现了完整的D表位。在所有携带者中未观察到Alloanti-D(0/60)。在未携带RHD*DEL1的78份弱/部分D样本中,共检测到24种RHD变异等位基因,其中6种为新等位基因。结论:RHD*DEL1等位基因常见于缺乏抗D免疫的弱/部分D表型人群。对于具有东亚和东南亚血统的血清学D-和弱D/部分D的个体,建议进行常规亚洲型DEL基因分型,以便在输血和妊娠期间将亚洲型DEL携带者视为D+个体。
The need for routine detection of the Asian-type DEL allele in individuals with weak or partial D phenotypes from East and Southeast Asian populations.
Background and objectives: Among the rare serologically D-negative (D-) individuals in Asia, those carrying the Asian-type DEL allele (RHD*DEL1) can be safely managed as D+ individuals during transfusion and pregnancy. Recently, some individuals carrying RHD*DEL1, who exhibit serologically weak/partial D phenotypes rather than the serologically D- phenotype, have also been described. Whether anti-D alloimmunization can occur among them was explored.
Materials and methods: A retrospective study was carried out in 143 Chinese pregnant women identified as serologically weak/partial D phenotypes. The RHD*DEL1 allele was detected using the high-resolution melting method. Then, RHD genotyping was determined mainly by Sanger sequencing. D epitope expression was detected with the anti-D panel (D-Screen) by haemagglutination and adsorption/elution tests.
Results: RHD*DEL1 allele carriers were identified in 42.0% (60/143) of weak/partial D women. The single genotypes (mainly RHD*DEL1/01N.01 or RHD*DEL1/DEL1, n = 52) and the compound heterozygous genotypes (RHD*DEL1/weak or partial D allele, n = 8) were detected. A complete repertoire of D epitopes was shown in six weak/partial D women who simultaneously carried the RHD*DEL1 allele. Alloanti-D was not observed among any carriers (0/60). In the remaining 78 weak/partial D samples available but not carrying RHD*DEL1, 24 types of RHD variant alleles, including six novel alleles, were detected.
Conclusion: The RHD*DEL1 allele occurred often in the Chinese individuals with weak/partial D phenotypes who showed a lack of anti-D alloimmunization. Routine Asian-type DEL genotyping is recommended both in serologically D- and weak D/partial D individuals with East and Southeast Asian ancestry to consider Asian-type DEL carriers as D+ individuals during transfusion and pregnancy.
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.