A serological and molecular study on a case of Rh blood group mosaicism.

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.