Reid M E, Hipsky C H, Velliquette R W, Lomas-Francis C, Larimore K, Olsen C
Laboratory of Immunochemistry, New York Blood Center, New York, NY 10065, USA.
Immunohematology. 2012;28(3):97-103.
Anti-hr(B) (-RH31) and anti-Hr(B) (-RH34) were found nearly 40 years ago in the serum of a South African woman. The anti-hr(B) was revealed after adsorption with DcE/DcE red blod cells (RCBs). Numerous anti-hr(B), in the absence of anti-Hr(B), have since been identified. We obtained a sample of blood from this index case (Bastiaan) and report the molecular basis of her D+C-E-c+e+/-, V-VS+Hr+hr(S)+hr(B)-Hr(B)- phenotype as well as results of testing her RBCs using currently available regents. We tested a cohort of African Americans to estimate the frequency of the RHCEce 48C,733G,1006T allele, and in addition found two novel RHD alleles. Hemagglutination tests and DNA analyses were performed by standard methods. Analyses revealed homozygosity for RHCEce 48C,733G,1006T in Bastiaan. RBCs from Bastiaan were strongly agglutinated by three commercial anti-e reagents. Testing RBCs from people homozygous for RHCEce 48C,733G,1006T showed that anti-e MS16, MS17, and MS63 were weakly reactive or non reactive, MS21 was strongly reactive, and HIRO38, HIRO41, and HIRO43 were non reactive. Results show that Bastiaan has RHDDIIIa150C and RHDDIIIa-CE(4-7)-D. Tests on 605 samples from random African Americans revealed a frequency of 0.036 for RHCEce 48C,733G,1006T and revealed two novel alleles: RHD186T and RHDDIIIa150C. The Bastiaan phenotype is encoded by RHDDIIIa150C-RHCEce 48C,733G,1006T and RHDDIIIa-CE(4-7)-D-RHCEce 48C,733G,1006T ; thus, this genotype is the gold standard for the hr(B)-Hr(B)-phenotype. The r'(s) complex encodes VS, which explains why most hr(B)-RCBs are VS+.
抗hr(B)(-RH31)和抗Hr(B)(-RH34)于近40年前在一名南非女性的血清中被发现。在用DcE/DcE红细胞（RBCs）吸附后，抗hr(B)得以显现。此后，在没有抗Hr(B)的情况下，又鉴定出了许多抗hr(B)。我们从这个索引病例（巴斯蒂安）获取了一份血液样本，并报告了她D+C-E-c+e+/-、V-VS+Hr+hr(S)+hr(B)-Hr(B)-表型的分子基础，以及使用现有试剂检测她的RBCs的结果。我们对一组非裔美国人进行了检测，以估计RHCEce 48C、733G、1006T等位基因的频率，此外还发现了两个新的RHD等位基因。采用标准方法进行血凝试验和DNA分析。分析显示巴斯蒂安的RHCEce 48C、733G、1006T为纯合子。巴斯蒂安的RBCs被三种市售抗-e试剂强烈凝集。对RHCEce 48C、733G、1006T纯合子个体的RBCs检测显示，抗-e MS16、MS17和MS63反应较弱或无反应，MS21反应强烈，HIRO38、HIRO41和HIRO43无反应。结果表明，巴斯蒂安具有RHDDIIIa150C和RHDDIIIa-CE(4-7)-D。对605份随机抽取的非裔美国人样本进行检测，结果显示RHCEce 48C、733G、1006T的频率为0.036，并发现了两个新等位基因：RHD186T和RHDDIIIa150C。巴斯蒂安的表型由RHDDIIIa150C-RHCEce 48C、733G、1006T和RHDDIIIa-CE(4-7)-D-RHCEce 48C、733G、1006T编码；因此，这种基因型是hr(B)-Hr(B)-表型的金标准。r'(s)复合体编码VS，这就解释了为什么大多数hr(B)-RBCs是VS+。
