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Frequency and characterization of RHD variant alleles in a population of blood donors from southeastern Brazil: Comparison with other populations.在巴西东南部的献血者人群中,RHD 变异等位基因的频率和特征:与其他人群的比较。
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High frequency of variant RHD genotypes among donors and patients of mixed origin with serologic weak-D phenotype.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。
J Clin Lab Anal. 2018 Nov;32(9):e22596. doi: 10.1002/jcla.22596. Epub 2018 Jun 26.

本文引用的文献

1
It's time to phase in RHD genotyping for patients with a serologic weak D phenotype. College of American Pathologists Transfusion Medicine Resource Committee Work Group.是时候对血清学弱D表型患者逐步引入RhD基因分型了。美国病理学家学会输血医学资源委员会工作组。
Transfusion. 2015 Mar;55(3):680-9. doi: 10.1111/trf.12941. Epub 2014 Dec 1.
2
Molecular basis and zygosity determination of D variants including identification of four novel alleles in Chinese individuals.D 变异体的分子基础和二倍型确定,包括在中国个体中鉴定出四个新的等位基因。
Transfusion. 2015 Jan;55(1):137-43. doi: 10.1111/trf.12797. Epub 2014 Jul 29.
3
Anti-D auto-immunization in a patient with weak D type 4.0.一名具有弱D 4.0型的患者发生抗-D自身免疫反应。
Transfus Clin Biol. 2014 Mar;21(1):43-6. doi: 10.1016/j.tracli.2013.10.001. Epub 2013 Dec 22.
4
Variants of RhD--current testing and clinical consequences.RhD 血型变体——当前的检测及临床意义。
Br J Haematol. 2013 May;161(4):461-70. doi: 10.1111/bjh.12275. Epub 2013 Feb 25.
5
Serologic and molecular characterization of D variants in Brazilians: impact for typing and transfusion strategy.巴西人群中D变异体的血清学和分子特征:对血型分型和输血策略的影响
Immunohematology. 2011;27(1):6-11.
6
Anti-D investigations in individuals expressing weak D Type 1 or weak D Type 2: allo- or autoantibodies?个体表达弱 D 型 1 或弱 D 型 2 时的抗-D 调查:同种异体或自身抗体?
Transfusion. 2011 Dec;51(12):2679-85. doi: 10.1111/j.1537-2995.2011.03207.x. Epub 2011 Jun 9.
7
How I manage donors and patients with a weak D phenotype.我如何管理具有弱D血型表型的献血者和患者。
Curr Opin Hematol. 2006 Nov;13(6):476-83. doi: 10.1097/01.moh.0000245694.70135.c3.
8
Partial D, weak D types, and novel RHD alleles among 33,864 multiethnic patients: implications for anti-D alloimmunization and prevention.33864名多民族患者中的部分D型、弱D型及新型RHD等位基因:对D抗原同种免疫及预防的影响
Transfusion. 2005 Oct;45(10):1554-60. doi: 10.1111/j.1537-2995.2005.00586.x.
9
Anti-D alloimmunization by weak D type 1 red blood cells with a very low antigen density.抗原密度极低的弱D1型红细胞引起的抗-D同种免疫。
Vox Sang. 2005 Feb;88(2):130-5. doi: 10.1111/j.1423-0410.2005.00604.x.
10
The Rh blood group system in review: a new face for the next decade.Rh血型系统综述:未来十年的新面貌。
Transfusion. 2004 Nov;44(11):1663-73. doi: 10.1111/j.0041-1132.2004.04237.x.

巴西人RhD血型鉴定结果不一致时的RHD变异类型

Variant RHD Types in Brazilians With Discrepancies in RhD Typing.

作者信息

Campos Fernanda Carolina Alves, Mota Mariza Aparecida, Aravechia Maria Giselda, Torres Kelyan Bertani, Bub Carolina Bonet, Kutner José Mauro, Castilho Lilian

机构信息

Departamento de Hemoterapia e Terapia Celular, Hospital Israelita Albert Einstein, Sao Paulo, SP, Brazil.

Hemocentro Unicamp, Campinas, SP, Brazil.

出版信息

J Clin Lab Anal. 2016 Nov;30(6):845-848. doi: 10.1002/jcla.21946. Epub 2016 Apr 13.

DOI:10.1002/jcla.21946
PMID:27076392
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6806703/
Abstract

BACKGROUND

The knowledge of D variants in patients and donors is important because anti-D alloimmunization can occur in some but not all individuals who express a variant RHD allele. Serologic distinction of RhD discrepancies is not always straightforward, which makes molecular analysis highly desirable.

METHODS

A group of 223 subjects, 129 patients, and 94 blood donors was identified and analyzed on the basis of a D typing discrepancy. The D antigen expression was evaluated by tube and gel hemagglutination with four anti-D reagents. PCR-single specific primer (SSP), multiplex PCR, RHD BeadChip (Immucor), or sequencing were used for molecular analysis.

RESULTS

In total, 168/223 (75%) weak D and 55/223 (25%) partial D variants were identified. Hemagglutination results varied in methods and anti-D reagents used in this process. There was no standard serologic reactivity identified, which could predict what type of D variant would be identified. Among weak D samples, types 1-3 were the most common, while DAR and DVI were most prevalent among partial D samples.

CONCLUSION

Our results show that discrepancies found in the serologic typing should be investigated by molecular methods in order to determine the D variant involved and also to distinguish between weak D and partial D. The knowledge of the distribution of weak D types and partial D among populations is important for D- patients and pregnant women management.

摘要

背景

了解患者和供体中的D变异体很重要,因为抗-D同种免疫可能发生在一些但并非所有表达变异RHD等位基因的个体中。RhD血型不符的血清学鉴别并不总是直截了当的,这使得分子分析非常必要。

方法

基于D血型分型不符,确定并分析了一组223名受试者,其中包括129名患者和94名献血者。使用四种抗-D试剂通过试管和凝胶血凝试验评估D抗原表达。采用聚合酶链反应-单特异性引物(PCR-SSP)、多重PCR、RHD基因芯片(Immucor)或测序进行分子分析。

结果

总共鉴定出168/223(75%)的弱D变异体和55/223(25%)的部分D变异体。在此过程中,血凝试验结果因方法和使用的抗-D试剂而异。未发现可预测将鉴定出何种类型D变异体的标准血清学反应性。在弱D样本中,1-3型最为常见,而DAR和DVI在部分D样本中最为普遍。

结论

我们的结果表明,血清学分型中发现的不符情况应通过分子方法进行研究,以确定所涉及的D变异体,并区分弱D和部分D。了解弱D型和部分D在人群中的分布情况对于D阴性患者和孕妇的管理很重要。