ABO genotype-phenotype discrepancy due to chimerism resolved by clonal separation

Yang, Hyung-Seok; Shin, Jung-Hae; Yang, John Jeongseok; Choi, Jae-Cheol; Park, Tae Sung; Lee, Ja Young; Kim, Hye Ran; Lee, Jeong Nyeo; Oh, Seung Hwan

doi:10.1007/s00277-017-3048-0

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Cited by 2 publications

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“…For the ABO genotyping, all coding DNA and flanking regions of the ABO gene ( NM_020469.3 ) were amplified and sequenced. The novel allele was separated and analyzed by cloning an amplified fragment between Exons 6 and 7, as described previously …”

Section: Methodsmentioning

confidence: 99%

A novel A allele with c.467C > T and c.784G > A nucleotide substitutions in Korean individuals

et al. 2020

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Section: Methodsmentioning

confidence: 99%

A novel A allele with c.467C > T and c.784G > A nucleotide substitutions in Korean individuals

et al. 2020

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Hematopoietic Chimera in a Male Blood Donor and His Dizygotic Twin Sister

Miola

Lopes²,

Silva³

et al. 2019

Transfus Med Hemother

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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*A1.01/ABO*B.01 and FUT2*01N.02/ FUT2*01N.02 in the male twin and the genotypes ABO*O.01.01/ABO*O.01.02 and FUT2*01/FUT2*01 in the female twin. The results of the HLA-DRB1 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.

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ABO genotype-phenotype discrepancy due to chimerism resolved by clonal separation

Cited by 2 publications

References 9 publications

A novel A allele with c.467C > T and c.784G > A nucleotide substitutions in Korean individuals

A novel A allele with c.467C > T and c.784G > A nucleotide substitutions in Korean individuals

Hematopoietic Chimera in a Male Blood Donor and His Dizygotic Twin Sister

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