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Abstract：
BACKGROUND: The discrimination between weak D types and partial D can be of clinical importance because carriers of partial D antigen may develop anti-D when transfused with D-positive red blood cell units. The aim of this study was to determine by molecular analysis the type of D variants among Brazilian patients requiring transfusions with serologic weak D phenotypes.
METHODS: Samples from 87 patients (53 with sickle cell disease, 10 with thalassemia and 24 with myelodysplastic syndrome), serologic typed as weak D by manual tube indirect antiglobulin test or gel test were first RHD genotyped by using the RHD BeadChip Kit (BioArray, Immucor). Sanger sequencing was performed when necessary.
RESULTS: RHD molecular analysis revealed 32 (36.8 %) variant RHD alleles encoding weak D phenotypes and 55 (63.2 %) alleles encoding partial D antigens. RHD variant alleles were present in the homozygous state or as a single RHD allele, one variant RHD allele associated with the RHDΨ allele, or two different variant RHD alleles in compound heterozygosity with each other in 70 patients, 4 patients and 13 patients, respectively. Alloanti-D was found in 9 (16.4 %) cases with RHD alleles predicting a partial D.
CONCLUSIONS: The frequency of partial D was higher than weak D types in Brazilian patients serologically typed as weak D, showing the importance to differentiate weak D types and partial D in transfused patients to establish a transfusion policy recommendation.
METHODS: Samples from 87 patients (53 with sickle cell disease, 10 with thalassemia and 24 with myelodysplastic syndrome), serologic typed as weak D by manual tube indirect antiglobulin test or gel test were first RHD genotyped by using the RHD BeadChip Kit (BioArray, Immucor). Sanger sequencing was performed when necessary.
RESULTS: RHD molecular analysis revealed 32 (36.8 %) variant RHD alleles encoding weak D phenotypes and 55 (63.2 %) alleles encoding partial D antigens. RHD variant alleles were present in the homozygous state or as a single RHD allele, one variant RHD allele associated with the RHDΨ allele, or two different variant RHD alleles in compound heterozygosity with each other in 70 patients, 4 patients and 13 patients, respectively. Alloanti-D was found in 9 (16.4 %) cases with RHD alleles predicting a partial D.
CONCLUSIONS: The frequency of partial D was higher than weak D types in Brazilian patients serologically typed as weak D, showing the importance to differentiate weak D types and partial D in transfused patients to establish a transfusion policy recommendation.
摘要：
背景：区分弱D型和部分D型可能具有临床重要性，因为部分D抗原的携带者在与D阳性红细胞单位输注时可能会产生抗D。这项研究的目的是通过分子分析确定需要输血的血清学弱D表型的巴西患者中D变异的类型。
方法：来自87例患者（53例镰状细胞病，10例地中海贫血和24例骨髓增生异常综合征），首先使用RHDBeadChip试剂盒（BioArray，Immucor）。必要时进行Sanger测序。
结果：RHD分子分析显示32个（36.8%）变异RHD等位基因编码弱D表型，55个（63.2%）等位基因编码部分D抗原。RHD变异等位基因以纯合状态或作为单个RHD等位基因存在，一个变异的RHD等位基因相关的RHD，或在70名患者中彼此复合杂合性的两个不同变异的RHD等位基因，4名患者和13名患者，分别。在9例（16.4％）RHD等位基因预测部分D的病例中发现了Alloanti-D。
结论：在血清学上分型为弱D的巴西患者中，部分D的频率高于弱D型，显示区分输血患者的弱D型和部分D型以建立输血政策建议的重要性。
方法：来自87例患者（53例镰状细胞病，10例地中海贫血和24例骨髓增生异常综合征），首先使用RHDBeadChip试剂盒（BioArray，Immucor）。必要时进行Sanger测序。
结果：RHD分子分析显示32个（36.8%）变异RHD等位基因编码弱D表型，55个（63.2%）等位基因编码部分D抗原。RHD变异等位基因以纯合状态或作为单个RHD等位基因存在，一个变异的RHD等位基因相关的RHD，或在70名患者中彼此复合杂合性的两个不同变异的RHD等位基因，4名患者和13名患者，分别。在9例（16.4％）RHD等位基因预测部分D的病例中发现了Alloanti-D。
结论：在血清学上分型为弱D的巴西患者中，部分D的频率高于弱D型，显示区分输血患者的弱D型和部分D型以建立输血政策建议的重要性。
