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首页> 外文期刊>Vox Sanguinis: International Journal of Blood Transfusion and Immunohaematology >Molecular matching for patients with haematological diseases expressing altered RHD ‐ RHCE RHD RHD ‐ RHCE RHCE genotypes
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Molecular matching for patients with haematological diseases expressing altered RHD ‐ RHCE RHD RHD ‐ RHCE RHCE genotypes

机译：表达RHD的血液学疾病患者的分子匹配 - RHCS RHD RHD - RHCE RHCE基因型

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Background and Objectives The high homology and the inverted orientation of RHD and RHCE may give rise to non‐functional and aberrant RH alleles. RH genotyping is used to screen RH matched donors to African descent patients. This study aimed to define a strategy for testing RHD and RHCE variants in blood donors to provide compatible units for transfusion of patients with haematological diseases. Materials and Methods Samples from 132 patients [101 Sickle cell disease ( SCD ), 14 myelodysplastic syndrome ( MDS ), 17 acute myelogenous leukaemia ( AML )] and 198 Brazilian donors were studied. Major blood group alleles, RHD , RHCE alleles and RHD zygosity were determined by the blood‐ MLPA assay. Sequencing was performed to determine RHD and RHCE variant subtypes. A match was an RH genotype that did not encode Rh antigens absent in the patient, along with matching for ABO , MNS , KEL , FY , JK and DI antigens. Results Overall, 7·6% of blood donors and 17.4% of patients presented RH genotypes that predict expression of partial Rh antigens or lack of high prevalence Rh antigens. From 23 patients with clinically relevant RH genotypes, 15 had available matched donors. Conclusion We report the presence of clinically relevant RH genotypes in SCD and in non‐ SCD patients. In our admixed population, many patients carry variant RHCE alleles in heterozygosity with normal RHCE alleles. Thus, our results suggest that donors could be selected based on the normal RH allele.
机译：背景和目标高同源性和rhD和rhce的倒置可以产生非功能性和异常的rh等位基因。 RH基因分型用于将RH匹配的捐助者筛选到非洲血统患者。本研究旨在确定献血者RHD和RHCE变体的策略，以提供用于输血的血液疾病患者的兼容单元。材料和方法来自132名患者的样品[101镰状细胞病（SCD），14例骨髓增生综合征（MDS），17例急性髓性白血病（AML）]和198个巴西供体。主要血液组等位基因，RHD，RHCE等位基因和RHD Zygosity由血液MLPA测定法测定。进行测序以确定RHD和RHCE变体亚型。一场比赛是在患者中没有编码Rh抗原的Rh基因型，以及ABO，MNS，KEL，FY，JK和DI抗原的匹配。结果总体而言，7·6％的献血者和17.4％的患者呈现Rh基因型，其预测部分Rh抗原或缺乏高流行症Rh抗原的表达。从23名患有临床相关的Rh基因型，15名患有匹配的供体。结论我们在SCD和非SCD患者中报告了临床相关rh基因型的存在。在我们的混合人口中，许多患者在常规RHCE等位基因中携带杂合性的变体RHCE等位基因。因此，我们的结果表明可以基于正常的Rh等位基因选择供体。

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