Turley Elona, McGowan Eunike C, Hyland Catherine A, Schoeman Elizna M, Flower Robert L, Skoll Amanda, Delisle Marie-France, Nelson Tanya, Clarke Gwen, Au Nicholas
Department of Laboratory Medicine and Pathology, University of Alberta.
Alberta Health Services, Edmonton, Alberta, Canada.
Transfusion. 2018 Oct;58(10):2260-2264. doi: 10.1111/trf.14944. Epub 2018 Sep 17.
RhD DEL variants may show complete or partial expression of RhD epitopes. There have been only rare reports of anti-D causing hemolytic disease of the fetus and newborn (HDFN) in this context. We report a case of severe HDFN associated with a recently described DEL variant.
A multiparous woman presented with an allo-anti-D and showed incongruent phenotyping and genotyping results on initial study. Further investigations identified the RHD mutation, defined as RHD148+1T and named RHD01EL.31, which had been previously associated with a DEL phenotype. Extended RhD phenotyping by adsorption-elution showed that there was reactivity with four of nine monoclonal anti-D antibodies, suggesting a partial DEL phenotype. The first child showed no clinical evidence of HDFN, although the cord direct antiglobulin test was positive. The second child developed fetal anemia treated with intrauterine transfusion, and neonatal hyperbilirubinemia requiring exchange transfusion.
The RHD allele, RHD*148+1T, results in a partial Del phenotype, and the anti-D formed in pregnant women with this phenotype is capable of causing severe HDFN.
RhD DEL变异型可能会出现RhD表位的完全或部分表达。在这种情况下，仅有罕见的关于抗-D导致胎儿及新生儿溶血病（HDFN）的报道。我们报告一例与最近描述的DEL变异型相关的严重HDFN病例。
一名经产妇出现同种抗-D，初始研究时其血型鉴定和基因分型结果不一致。进一步检查确定了RHD突变，定义为RHD148+1T，命名为RHD01EL.31，此前已发现其与DEL血型表型相关。通过吸收-洗脱进行的扩展RhD血型鉴定显示，该变异型与9种抗-D单克隆抗体中的4种有反应性，提示为部分DEL血型表型。第一个孩子虽然脐带直接抗球蛋白试验呈阳性，但未出现HDFN的临床证据。第二个孩子出现胎儿贫血，接受了宫内输血治疗，新生儿期出现高胆红素血症，需要进行换血治疗。
RHD等位基因RHD*148+1T导致部分Del血型表型，具有这种血型表型的孕妇体内产生的抗-D能够导致严重的HDFN。
