Miola Marcos P, Lopes Alessandro G, Silva Alessandra P, Gomes Edney G C, Machado Leticia A F, Veloso Wanessa A, Costa Carlos A, Fachini Roberta M, Ricci Junior Octávio, Brandão de Mattos Cinara C, de Mattos Luiz Carlos
Department of Molecular Biology, Medical School of São José do Rio Preto (FAMERP), São José do Rio Preto, Brazil.
Department of Biology, Instituto de Biociências, Letras, Ciências Exatas (IBILCE), Campus de São José do Rio Preto, São José do Rio Preto, Brazil.
Transfus Med Hemother. 2019 Aug;46(4):276-281. doi: 10.1159/000495583. Epub 2019 Feb 27.
Twin hematopoietic chimera in humans is a phenomenon that was discovered accidentally and the prevalence of which remains unclear. The resolution of chimera cases requires studying family medical records, data analysis, and investigations of hematopoietic cells and cells from other tissues. The interactions among ABO, Lewis, and secretor histo-blood group systems are explored to resolve cases of hematopoietic chimera. Here we report a rare case of hematopoietic chimera where twins present a mixed field reaction in the ABO, Rh, and Kidd red blood cell phenotyping. Using red blood cells separated from the mixed field as well as molecular approaches and investigations of family members, we identify inconsistent genotypes with the Mendelian inheritance pattern when comparing the peripheral blood with the buccal epithelium of the male twin and his twin sister. Analysis of the ABO, Lewis, and secretor phenotypes, and genomic DNA from buccal epithelium showed the genotypes /ABO and */ * in the male twin and the genotypes / and / in the female twin. The results of the genotyping showed inconsistency between the male and his twin sister. We conclude that the serological analyses combined with molecular approaches used in this study are good tools to resolve cases of hematopoietic chimera.
人类双生子造血嵌合体是一种偶然发现的现象，其发生率尚不清楚。嵌合体病例的诊断需要研究家族病历、数据分析以及对造血细胞和其他组织细胞的检测。为诊断造血嵌合体病例，需探究ABO、Lewis和分泌型组织血型系统之间的相互作用。在此，我们报告一例罕见的造血嵌合体病例，该双胞胎在ABO、Rh和Kidd红细胞表型检测中呈现混合视野反应。利用从混合视野中分离出的红细胞以及分子方法并对家庭成员进行检测，我们发现，在比较男性双胞胎及其双胞胎姐妹的外周血和颊黏膜上皮时，其基因型不符合孟德尔遗传模式。对ABO、Lewis和分泌型表型以及颊黏膜上皮基因组DNA的分析显示，男性双胞胎的基因型为*/ABO和/ ，女性双胞胎的基因型为/和/*。基因分型结果显示该男性与其双胞胎姐妹不一致。我们得出结论，本研究中使用的血清学分析与分子方法相结合是诊断造血嵌合体病例的良好工具。
