Somatic mosaicisms of chromosome 1 at two different stages of ontogenetic development detected by Rh blood group discrepancies.

Somatic mosaicisms of chromosome 1 at two different stages of ontogenetic development detected by Rh blood group discrepancies. Haematologica. 2018 Sep 20;: Authors: Dauber EM, Mayr WR, Hustinx H, Schönbacher M, Budde H, Legler TJ, König M, Haas OA, Fritsch G, Körmöczi GF Abstract Spontaneous Rh blood group changes are a striking sign, reported to occur preferably in patients with hematological disorders. Upon routine blood grouping, two unrelated individuals showed unexplained mixed red cell phenotype regarding the highly immunogenic c antigen (RH4) clinically relevant for blood transfusion and fetomaternal incompatibility. About half of their red cells were c-positive, whereas the other half was c-negative. These apparently hematologically healthy females had no history of transfusion or transplantation, and they tested negative for chimerism. Genotyping of flanking chromosome 1 microsatellites in blood, finger nails, hairs, leucocyte subpopulations and erythroid progenitor cells showed partial loss of heterozygosity encompassing the RHD/RHCE loci, spanning an 1p region of 26.7 or 42.4 Mb, respectively. Remarkably, in one case this was detected in all investigated tissues, whereas in the other exclusively myeloid cells showed loss of heterozygosity. Both carried the RhD-positive haplotypes CDe and the RhD-negative haplotype cde. RHD/RHCE genotypes of single erythroid colonies and dual-color fluorescent in-situ hybridization ana...
Source: Haematologica - Category: Hematology Authors: Tags: Haematologica Source Type: research