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High frequency of variant RHD RHD RHD genotypes among donors and patients of mixed origin with serologic weak‐D phenotype

机译:血清弱表型的供体和混合源患者的变体RHD RHD基因型的高频率

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Background 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. Goal To evaluate the distribution of RHD variant genotype among individuals with serologic weak‐D phenotype of both African and European descent. Methods 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. Results 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). RHD * DAR and RHD *weak 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. Conclusion 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.
机译:背景技术建议对具有血清弱表型的个体的电流输血策略基于欧洲血统群体的数据。参照混合起源人群中弱弱表型的Rh等位基因的分布的数据尚不完整,并且欧洲的输血指南对这种特定人群的适用性是值得怀疑的。综合评价血清弱对非洲和欧洲血统血清弱表型的血清弱表型的rHD变体基因型分布的目标。方法选择混合源和血清弱表型的供体和患者进行研究。使用常规RHD-PCR测定和RHD全编码区直接测序研究了它们。结果包括一百六个捐助者和58名患者。有47名捐助者和29名患有部分D基因型(47/106,44.3%和29/58,50%)。 RHD * DAR和RHD *弱D型38代表捐赠者中最常见的改变RHD等位基因(接头频率为39.6%),而弱D类型1-3占总D变体样品的10.4%。 RHD * DAR是患者组中鉴定的最常见等位基因(31%的频率),弱D类型1-3代表总数的29.3%。结论血清弱表型混合个体中部分D的频率高。它们应该以D阴性患者进行管理,直到分子测试完成。

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