Institut National de la Transfusion Sanguine, CNRGS-INSERM U665, Paris, France.
Transfusion. 2011 Jun;51(6):1249-60. doi: 10.1111/j.1537-2995.2010.02970.x. Epub 2010 Dec 16.
DNA testing has enabled the documenting of numerous variants of RHCE alleles, especially in individuals of African origin. The risk for production of clinically significant alloantibodies to Rh antigens of patients carrying variant RHCE alleles has led us to analyze the different RhCE variants investigated by molecular biology. Alloimmunization was analyzed regarding the RHCE genetic profile.
Samples from 806 individuals with altered expression of RhCE antigens and/or producing anti-RhCE in the presence of the corresponding antigen were analyzed.
A total of 572 individuals were shown to express RhCE variants. Variant RHCE*ce alleles and RH haplotypes were identified in 83% of cases, the most frequent ones being the R(N) haplotype, the ceMO allele, the (C)ce(s) haplotype/ce(s) 1006 allele, and the ceAR allele identified in 36, 23, 20, and 17% of the tested samples, respectively. The absence of a high-prevalence Rh antigen was documented in 93 individuals. Partial C and partial e were expressed by 53% of individuals with RhCE variants. Rh antibodies were identified in 127 (20%) of 623 patients. They were found to be alloantibodies in 48 (38%) of these 127 patients. Alloimmunization against a high-prevalence Rh antigen was detected in 25% of cases.
The challenge in clinical red blood cell (RBC) transfusion of patients with sickle cell disease, notably, would be to provide not only phenotypically matched, but also genetically matched, RBC units regarding RhCE variants.
DNA 检测使人们能够记录大量 RHCE 等位基因的变体，尤其是在非洲裔个体中。携带变体 RHCE 等位基因的患者产生针对 Rh 抗原的临床意义重大的同种异体抗体的风险，促使我们分析通过分子生物学研究的不同 RhCE 变体。对同种免疫进行了关于 RHCE 遗传特征的分析。
对 806 名表达 RhCE 抗原改变和/或在存在相应抗原的情况下产生抗 RhCE 的个体的样本进行了分析。
共发现 572 例个体表达 RhCE 变体。在 83%的病例中鉴定出变体 RHCE*ce 等位基因和 RH 单倍型，最常见的是 R(N)单倍型、ceMO 等位基因、（C）ce(s) 单倍型/ce(s)1006 等位基因和 ceAR 等位基因，分别在 36%、23%、20%和 17%的检测样本中发现。在 93 名个体中记录到缺乏高流行 Rh 抗原。53%的 RhCE 变体个体表达部分 C 和部分 e。在 623 名患者中的 127 名（20%）中鉴定出 Rh 抗体。在这些 127 名患者中的 48 名（38%）中发现为同种异体抗体。在 25%的病例中检测到针对高流行 Rh 抗原的同种免疫。
镰状细胞病患者临床红细胞（RBC）输血的挑战将不仅是提供表型匹配，而且要针对 RhCE 变体提供基因匹配的 RBC 单位。
