Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis · 2025
A serological and molecular study on a case of Rh blood group mosaicism.
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Yin Mingwei, Huang Xinyu, Pian Jing, Ma Jihua, Hong Xiaozhen, Chen Xuejun, Xu Xianguo
Аннотация
BACKGROUND: Mosaicism refers to the presence of two or more genetically different cell lines within a single individual, the majority of which are accidentally discovered through routine blood group identification. Here, we report one case of Rh blood group mosaicism in a 10-year-old Chinese male.
METHODS: Serological tests for the Rh blood group were performed via gel microcolumn tests and saline methods. Mosaic red blood cells (RBCs) were quantified via flow cytometry. The G-banded karyotype was analyzed at a 550-band resolution. Short tandem repeat (STR) analysis was used to compare the allele repeats at specific loci in DNA between blood, buccal mucosal, and hair shaft samples.
RESULTS: Mixed-field agglutination with anti-C and anti-e antibodies was identified in the gel microcolumn test. The proportion of those positive for the C antigen was 47.26 %, while that of the negative ones was 52.74 %, as calculated by flow cytometry, and the double populations were identified as DCcEe- and DccEE-phenotype RBCs by multiple centrifugations. Karyotype analysis revealed 46, XY in the proband. STR analysis revealed that additional paternal alleles were present at the D1S1656, CSF1PO, and Penta D loci.
CONCLUSION: An individual with natural Rh blood group mosaicism was identified.
METHODS: Serological tests for the Rh blood group were performed via gel microcolumn tests and saline methods. Mosaic red blood cells (RBCs) were quantified via flow cytometry. The G-banded karyotype was analyzed at a 550-band resolution. Short tandem repeat (STR) analysis was used to compare the allele repeats at specific loci in DNA between blood, buccal mucosal, and hair shaft samples.
RESULTS: Mixed-field agglutination with anti-C and anti-e antibodies was identified in the gel microcolumn test. The proportion of those positive for the C antigen was 47.26 %, while that of the negative ones was 52.74 %, as calculated by flow cytometry, and the double populations were identified as DCcEe- and DccEE-phenotype RBCs by multiple centrifugations. Karyotype analysis revealed 46, XY in the proband. STR analysis revealed that additional paternal alleles were present at the D1S1656, CSF1PO, and Penta D loci.
CONCLUSION: An individual with natural Rh blood group mosaicism was identified.