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对东亚和东南亚人群中具有弱D或部分D表型个体进行亚洲型DEL等位基因常规检测的必要性。

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.

作者信息

Wen Jizhi, Ma Xiaojie, Jia Shuangshuang, Chen Jingwang, Wei Ling, Ji Yanli

机构信息

Institute of Blood Transfusion and Hematology, Guangzhou Blood Center, Guangzhou Medical University, Guangzhou, China.

The Key Medical Laboratory of Guangzhou, Guangzhou, China.

出版信息

Vox Sang. 2025 Jul;120(7):714-722. doi: 10.1111/vox.70048. Epub 2025 May 19.

DOI:10.1111/vox.70048
PMID:40389221
Abstract

BACKGROUND AND OBJECTIVES

Among the rare serologically D-negative (D-) individuals in Asia, those carrying the Asian-type DEL allele (RHDDEL1) can be safely managed as D+ individuals during transfusion and pregnancy. Recently, some individuals carrying RHDDEL1, 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

RHDDEL1 allele carriers were identified in 42.0% (60/143) of weak/partial D women. The single genotypes (mainly RHDDEL1/01N.01 or RHDDEL1/DEL1, n = 52) and the compound heterozygous genotypes (RHDDEL1/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 RHDDEL1 allele. Alloanti-D was not observed among any carriers (0/60). In the remaining 78 weak/partial D samples available but not carrying RHDDEL1, 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.

摘要

背景与目的

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(RHDDEL1)的个体在输血和妊娠期间可作为D阳性个体安全管理。最近,也有一些携带RHDDEL1的个体被描述,他们表现出血清学弱/部分D表型而非血清学D-表型。探讨了其中是否会发生抗-D同种免疫。

材料与方法

对143名被鉴定为血清学弱/部分D表型的中国孕妇进行了一项回顾性研究。采用高分辨率熔解法检测RHD*DEL1等位基因。然后,主要通过桑格测序确定RHD基因分型。通过血凝试验和吸附/洗脱试验,用抗-D试剂板(D-Screen)检测D抗原表位表达。

结果

在42.0%(60/143)的弱/部分D表型女性中鉴定出RHDDEL1等位基因携带者。检测到单一基因型(主要为RHDDEL1/01N.01或RHDDEL1/DEL1,n = 52)和复合杂合基因型(RHDDEL1/弱或部分D等位基因,n = 8)。在同时携带RHDDEL1等位基因的6名弱/部分D表型女性中显示出完整的D抗原表位库。在任何携带者中均未观察到同种抗-D(0/60)。在其余78份可用但未携带RHDDEL1的弱/部分D样本中,检测到24种RHD变异等位基因,包括6种新等位基因。

结论

RHD*DEL1等位基因在中国具有弱/部分D表型且未发生抗-D同种免疫的个体中经常出现。建议对具有东亚和东南亚血统的血清学D阴性以及弱D/部分D个体进行常规的亚洲型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阳性个体。

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