Department of Transfusion, CHU Brugmann, LHUB-ULB, Brussels, Belgium.
Institut National de la Transfusion Sanguine (INTS), Centre National de Référence pour les Groupes Sanguins (CNRGS), Paris, France.
Vox Sang. 2020 Jul;115(5):451-455. doi: 10.1111/vox.12905. Epub 2020 Mar 20.
RHCEceEK is a rare RH allele mostly encountered in people of African descent. This allele is defined by four single nucleotide substitutions: c.48G>C, c.712A>G, c.787A>G and c.800T>A. Until now, it has only been reported to segregate with either RHD01N.01 or RHD*DAR1.00.
Blood samples were drawn from a 32-year-old Tutsi pregnant woman during an antenatal visit in order to perform her type and screen. To further investigate the results found in the patient, a family study was conducted. Standard haemagglutination methods were used to investigate the subjects' red blood cells and plasma. Molecular workup on RHD and RHCE genes was carried out by DNA microarray, real-time PCR and DNA sequencing techniques.
The patient was phenotyped as group B, D+C-E-c+e+, Hr-. A complex mixture of anti-E, anti-c, anti-Hr and anti-hr was detected in her plasma. She was found to carry a normal RHD gene, a conventional RHCEceEK allele and an alternative RHCEceEK allele (RHCEceEK without c.48G>C). The family study showed that the conventional RHCEceEK and the alternative RHCEceEK alleles were associated with a RHD01 allele and a RHD01N.01 allele, respectively. Molecular analysis performed in the proband's mother showed a novel RHCEce variant allele on a RHCEce -like background (RHCEce with c.609G>A).
This case study brought out new associations between RHD and RHCE alleles encoding the rare Hr- phenotype: the conventional RHCEceEK allele linked to the RHD01 allele and an alternative RHCEceEK allele associated with the RHD01N.01 allele. A novel RHCEce variant (RHCEce with c.609G>A) was also reported.
RHCEceEK 是一种罕见的 RH 等位基因，主要见于非裔人群。该等位基因由四个单核苷酸替换定义：c.48G>C、c.712A>G、c.787A>G 和 c.800T>A。到目前为止，它仅与 RHD01N.01 或 RHD*DAR1.00 一起被报道。
在一次产前检查中，从一名 32 岁的图西族孕妇身上抽取血液样本，以进行其血型和筛查。为了进一步研究患者发现的结果，进行了家族研究。使用标准的血凝方法检测受试者的红细胞和血浆。通过 DNA 微阵列、实时 PCR 和 DNA 测序技术对 RHD 和 RHCE 基因进行分子分析。
患者表型为 B 组、D+C-E-c+e+、Hr-。在她的血浆中检测到复杂的抗-E、抗-c、抗-Hr 和抗-hr 混合物。她携带正常的 RHD 基因、常规 RHCEceEK 等位基因和替代 RHCEceEK 等位基因（无 c.48G>C 的 RHCEceEK）。家族研究表明，常规 RHCEceEK 和替代 RHCEceEK 等位基因分别与 RHD01 等位基因和 RHD01N.01 等位基因相关。在先证者母亲中进行的分子分析显示，在 RHCEce 样背景下存在一种新的 RHCEce 变体等位基因（RHCEce 伴有 c.609G>A）。
本病例研究揭示了 RHD 和 RHCE 等位基因编码罕见 Hr-表型之间的新关联：常规 RHCEceEK 等位基因与 RHD01 等位基因相连，替代 RHCEceEK 等位基因与 RHD01N.01 等位基因相连。还报道了一种新的 RHCEce 变体（RHCEce 伴有 c.609G>A）。
