Suppr超能文献

具有血清学弱D表型的混合血统供者和患者中RHD基因变异型的高频率。

High frequency of variant RHD genotypes among donors and patients of mixed origin with serologic weak-D phenotype.

作者信息

Dezan Marcia Regina, Oliveira Valéria B, Gomes Çarolina Nunes, Luz Fabio, Gallucci Antônio J, Bonifácio Silvia L, Alencar Cecília Salete, Sabino Ester C, Pereira Alexandre C, Krieger Jose E, Rocha Vanderson, Mendrone-Junior Alfredo, Dinardo Carla L

机构信息

Immunohematology, Fundação Pró-Sangue Hemocentro de São PauloSão Paulo, São Paulo, Brazil.

Laboratório de Medicina Laboratorial, Divisão de Laboratório Central Hospital das Clinicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.

出版信息

J Clin Lab Anal. 2018 Nov;32(9):e22596. doi: 10.1002/jcla.22596. Epub 2018 Jun 26.

Abstract

BACKGROUND

The current transfusion policy recommended for individuals with serologic weak-D phenotype is based on data derived from European-descent populations. Data referring to the distribution of RH alleles underlying weak-D phenotype among people of mixed origin are yet incomplete, and the applicability of European-based transfusion guidelines to this specific population is questionable.

GOAL

To evaluate the distribution of RHD variant genotype among individuals with serologic weak-D phenotype of both African and European descent.

METHODS

Donors and patients of mixed origin and with serologic weak-D phenotype were selected for the study. They were investigated using conventional RHD-PCR assays and RHD whole-coding region direct sequencing.

RESULTS

One hundred and six donors and 58 patients were included. There were 47 donors and 29 patients with partial-D genotype (47/106, 44.3%, and 29/58, 50%, respectively). RHDDAR and RHDweak D type 38 represented the most common altered RHD alleles among donors (joint frequency of 39.6%), while weak D types 1-3 accounted for 10.4% of the total D variant samples. RHD*DAR was the most common allele identified in the patient group (frequency of 31%), and weak D types 1-3 represented 29.3% of the total.

CONCLUSION

The frequency of partial D among mixed individuals with serologic weak-D phenotype is high. They should be managed as D-negative patients until molecular tests are complete.

摘要

背景

目前针对血清学弱 D 表型个体推荐的输血政策是基于欧洲血统人群的数据。关于混合血统人群中弱 D 表型所对应的 RH 等位基因分布的数据尚不完整,基于欧洲的输血指南对这一特定人群的适用性存在疑问。

目标

评估非洲和欧洲血统的血清学弱 D 表型个体中 RHD 变异基因型的分布情况。

方法

选择混合血统且血清学为弱 D 表型的献血者和患者进行研究。采用传统的 RHD-PCR 检测和 RHD 全编码区直接测序对他们进行调查。

结果

共纳入 106 名献血者和 58 名患者。有 47 名献血者和 29 名患者为部分 D 基因型(分别占 47/106,44.3%和 29/58,50%)。RHDDAR 和 RHD弱 D 型 38 是献血者中最常见的改变的 RHD 等位基因(联合频率为 39.6%),而弱 D 型 1 - 3 占 D 变异样本总数的 10.4%。RHD*DAR 是患者组中鉴定出的最常见等位基因(频率为 31%),弱 D 型 1 - 3 占总数的 29.3%。

结论

血清学弱 D 表型的混合个体中部分 D 的频率较高。在分子检测完成之前,应将他们作为 D 阴性患者进行管理。

相似文献

1
High frequency of variant RHD genotypes among donors and patients of mixed origin with serologic weak-D phenotype.
J Clin Lab Anal. 2018 Nov;32(9):e22596. doi: 10.1002/jcla.22596. Epub 2018 Jun 26.
4
Standardization of a multiplex assay to identify weak D types in a mixed-race Brazilian population.
Immunohematology. 2023 Oct 16;39(3):93-100. doi: 10.2478/immunohematology-2023-016. eCollection 2023 Sep 1.
5
Variant RHD Types in Brazilians With Discrepancies in RhD Typing.
J Clin Lab Anal. 2016 Nov;30(6):845-848. doi: 10.1002/jcla.21946. Epub 2016 Apr 13.
6
RHD genotyping of serologic RhD-negative blood donors in a hospital-based blood donor center.
Transfusion. 2019 Jul;59(7):2422-2428. doi: 10.1111/trf.15325. Epub 2019 May 6.
7
Clinically relevant RHD-CE genotypes in patients with sickle cell disease and in African Brazilian donors.
Blood Transfus. 2016 Sep;14(5):449-54. doi: 10.2450/2016.0275-15. Epub 2016 Apr 28.
8
Identification of RHD alleles with the potential of anti-D immunization among seemingly D- blood donors in Upper Austria.
Transfusion. 2009 Apr;49(4):676-81. doi: 10.1111/j.1537-2995.2008.02046.x. Epub 2009 Jan 2.
9
Transfusion strategy for weak D Type 4.0 based on RHD alleles and RH haplotypes in Tunisia.
Transfusion. 2018 Feb;58(2):306-312. doi: 10.1111/trf.14411. Epub 2017 Nov 29.
10
Transfusion support during childbirth for a woman with anti-U and the allele.
Immunohematology. 2021 Mar;37(1):1-4. doi: 10.21307/immunohematology-2021-001.

引用本文的文献

1
[Genotyping and its applications, a look to the future].
Rev Med Inst Mex Seguro Soc. 2023 Jan 1;61(Suppl 1):S37-S45.
2
RHD Genotyping of Rh-Negative and Weak D Phenotype among Blood Donors in Southeast Iran.
Int J Hematol Oncol Stem Cell Res. 2021 Oct 1;15(4):213-220. doi: 10.18502/ijhoscr.v15i4.7476.
3
It's time to phase out "serologic weak D phenotype" and resolve D types with RHD genotyping including weak D type 4.
Transfusion. 2020 Apr;60(4):855-859. doi: 10.1111/trf.15741. Epub 2020 Mar 12.

本文引用的文献

2
Transfusion strategy for weak D Type 4.0 based on RHD alleles and RH haplotypes in Tunisia.
Transfusion. 2018 Feb;58(2):306-312. doi: 10.1111/trf.14411. Epub 2017 Nov 29.
5
Variant RHD Types in Brazilians With Discrepancies in RhD Typing.
J Clin Lab Anal. 2016 Nov;30(6):845-848. doi: 10.1002/jcla.21946. Epub 2016 Apr 13.
7
New RHD variant alleles.
Transfusion. 2015 Feb;55(2):427-9. doi: 10.1111/trf.12828. Epub 2014 Sep 1.
8
How do we identify RHD variants using a practical molecular approach?
Transfusion. 2014 Apr;54(4):962-9. doi: 10.1111/trf.12557. Epub 2014 Feb 28.
9
Genomic analyses of RH alleles to improve transfusion therapy in patients with sickle cell disease.
Blood Cells Mol Dis. 2014 Apr;52(4):195-202. doi: 10.1016/j.bcmd.2013.11.003. Epub 2013 Dec 2.
10
High prevalence of red blood cell alloimmunization in sickle cell disease despite transfusion from Rh-matched minority donors.
Blood. 2013 Aug 8;122(6):1062-71. doi: 10.1182/blood-2013-03-490623. Epub 2013 May 30.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验