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本文引用的文献

1
A proposal for a rational transfusion strategy in patients of European and North African descent with weak D type 4.0 and 4.1 phenotypes.关于欧洲和北非血统、具有弱D 4.0和4.1表型患者的合理输血策略的提议。
Blood Transfus. 2019 Mar;17(2):89-90. doi: 10.2450/2018.0059-18. Epub 2018 May 3.
2
Whole-exome sequencing for genotyping and alloimmunization risk in children with sickle cell anemia.镰状细胞贫血患儿基因分型及同种免疫风险的全外显子组测序
Blood Adv. 2017 Aug 3;1(18):1414-1422. doi: 10.1182/bloodadvances.2017007898. eCollection 2017 Aug 8.
3
Transfusion strategy for weak D Type 4.0 based on RHD alleles and RH haplotypes in Tunisia.突尼斯基于RHD等位基因和RH单倍型的弱D 4.0型输血策略。
Transfusion. 2018 Feb;58(2):306-312. doi: 10.1111/trf.14411. Epub 2017 Nov 29.
4
Application of genomics for transfusion therapy in sickle cell anemia.基因组学在镰状细胞贫血输血治疗中的应用。
Blood Cells Mol Dis. 2017 Sep;67:148-154. doi: 10.1016/j.bcmd.2017.08.006. Epub 2017 Aug 8.
5
Serological weak D phenotypes: a review and guidance for interpreting the RhD blood type using the RHD genotype.血清学弱 D 表型:使用 RHD 基因型解释 RhD 血型的综述与指南
Br J Haematol. 2017 Oct;179(1):10-19. doi: 10.1111/bjh.14757. Epub 2017 May 16.
6
The DAU cluster: a comparative analysis of 18 RHD alleles, some forming partial D antigens.DAU基因簇:18种RHD等位基因的比较分析,其中一些形成部分D抗原。
Transfusion. 2016 Oct;56(10):2520-2531. doi: 10.1111/trf.13739. Epub 2016 Aug 2.
7
Delayed hemolytic transfusion reaction in adult sickle-cell disease: presentations, outcomes, and treatments of 99 referral center episodes.成人镰状细胞病中的迟发性溶血性输血反应:99 例转诊中心病例的表现、结局和治疗。
Am J Hematol. 2016 Oct;91(10):989-94. doi: 10.1002/ajh.24460. Epub 2016 Jul 14.
8
Clinically relevant RHD-CE genotypes in patients with sickle cell disease and in African Brazilian donors.镰状细胞病患者及非洲裔巴西献血者中具有临床相关性的RHD-CE基因型
Blood Transfus. 2016 Sep;14(5):449-54. doi: 10.2450/2016.0275-15. Epub 2016 Apr 28.
9
Early occurrence of red blood cell alloimmunization in patients with sickle cell disease.镰状细胞病患者红细胞同种免疫的早期发生。
Am J Hematol. 2016 Aug;91(8):763-9. doi: 10.1002/ajh.24397. Epub 2016 May 24.
10
RHCE*ceAG (254C>G, Ala85Gly) is prevalent in blacks, encodes a partial ce-phenotype, and is associated with discordant RHD zygosity.RHCE*ceAG(254C>G,丙氨酸85位突变为甘氨酸)在黑人中很常见,编码部分ce表型,并与RHD纯合性不一致有关。
Transfusion. 2015 Nov;55(11):2624-32. doi: 10.1111/trf.13225. Epub 2015 Jul 14.

镰状细胞病患者的基因分型:法国的策略。

Genotyping in Sickle Cell Disease Patients: The French Strategy.

作者信息

Floch Aline, Tournamille Christophe, Chami Btissam, Pirenne France

机构信息

Etablissement Français du Sang (EFS) - Ile de France, Créteil, France.

INSERM U955, Equipe 2 'Transfusion et maladies du globule rouge', Créteil, France.

出版信息

Transfus Med Hemother. 2018 Jul;45(4):264-270. doi: 10.1159/000490858. Epub 2018 Jul 6.

DOI:10.1159/000490858
PMID:30283276
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6158580/
Abstract

This review presents the French strategy for blood group genotyping in high-responder and newly diagnosed sickle cell disease (SCD) patients. In addition to , , and genotyping, the RH blood group system is now explored in SCD patients in France. Molecular typing has been used for the deduction of partial RH2 (C) antigens since 2010, and the gradual implementation of systematic and genotyping nationwide was initiated in late 2014. In our laboratory, 962 RH:2 (C-positive) SCD patients have been tested since 2010, and 1,148 SCD patients of all RH phenotypes have been genotyped for clinically relevant alleles of and since late 2014.

摘要

本综述介绍了法国针对高反应性和新诊断的镰状细胞病(SCD)患者进行血型基因分型的策略。除了 、 和 基因分型外,法国目前还在SCD患者中探索RH血型系统。自2010年以来,分子分型已用于推断部分RH2(C)抗原,2014年末开始在全国逐步实施系统性的 和 基因分型。自2010年以来,我们实验室已对962例RH:2(C阳性)SCD患者进行了检测,自2014年末以来,已对1148例所有RH表型的SCD患者进行了 和 临床相关等位基因的基因分型。