Dezan Marcia Regina, Oliveira Valéria B, Gomes Çarolina Nunes, Luz Fabio, Gallucci Antônio J, Bonifácio Silvia L, Alencar Cecília Salete, Sabino Ester C, Pereira Alexandre C, Krieger Jose E, Rocha Vanderson, Mendrone-Junior Alfredo, Dinardo Carla L
Immunohematology, Fundação Pró-Sangue Hemocentro de São PauloSão Paulo, São Paulo, Brazil.
Laboratório de Medicina Laboratorial, Divisão de Laboratório Central Hospital das Clinicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
J Clin Lab Anal. 2018 Nov;32(9):e22596. doi: 10.1002/jcla.22596. Epub 2018 Jun 26.
The current transfusion policy recommended for individuals with serologic weak-D phenotype is based on data derived from European-descent populations. Data referring to the distribution of RH alleles underlying weak-D phenotype among people of mixed origin are yet incomplete, and the applicability of European-based transfusion guidelines to this specific population is questionable.
To evaluate the distribution of RHD variant genotype among individuals with serologic weak-D phenotype of both African and European descent.
Donors and patients of mixed origin and with serologic weak-D phenotype were selected for the study. They were investigated using conventional RHD-PCR assays and RHD whole-coding region direct sequencing.
One hundred and six donors and 58 patients were included. There were 47 donors and 29 patients with partial-D genotype (47/106, 44.3%, and 29/58, 50%, respectively). RHDDAR and RHDweak D type 38 represented the most common altered RHD alleles among donors (joint frequency of 39.6%), while weak D types 1-3 accounted for 10.4% of the total D variant samples. RHD*DAR was the most common allele identified in the patient group (frequency of 31%), and weak D types 1-3 represented 29.3% of the total.
The frequency of partial D among mixed individuals with serologic weak-D phenotype is high. They should be managed as D-negative patients until molecular tests are complete.
目前针对血清学弱 D 表型个体推荐的输血政策是基于欧洲血统人群的数据。关于混合血统人群中弱 D 表型所对应的 RH 等位基因分布的数据尚不完整，基于欧洲的输血指南对这一特定人群的适用性存在疑问。
评估非洲和欧洲血统的血清学弱 D 表型个体中 RHD 变异基因型的分布情况。
选择混合血统且血清学为弱 D 表型的献血者和患者进行研究。采用传统的 RHD-PCR 检测和 RHD 全编码区直接测序对他们进行调查。
共纳入 106 名献血者和 58 名患者。有 47 名献血者和 29 名患者为部分 D 基因型（分别占 47/106，44.3%和 29/58，50%）。RHDDAR 和 RHD弱 D 型 38 是献血者中最常见的改变的 RHD 等位基因（联合频率为 39.6%），而弱 D 型 1 - 3 占 D 变异样本总数的 10.4%。RHD*DAR 是患者组中鉴定出的最常见等位基因（频率为 31%），弱 D 型 1 - 3 占总数的 29.3%。
血清学弱 D 表型的混合个体中部分 D 的频率较高。在分子检测完成之前，应将他们作为 D 阴性患者进行管理。
