Two Populations of Rh Groups together with Chromosomally Abnormal Cell Lines in the Bone Marrow

Mosaicism due to myeloid lineage–restricted loss of heterozygosity as cause of spontaneous Rh phenotype splitting

“…Judging from the literature, Rh mosaicism appears to be preferably recognized in patients suffering from hematologic disease. 2,[9][10][11][12][13][14][15]51 Moreover, in a number of cases, re-establishment of the normal unmixed Rh phenotype upon remission of hematologic disease, and Rh antigen loss upon relapsing or progressive disease, documented the dependence of Rh mosaicism on pathological stem-cell clones. 2,13,14,51 However, varying proportions of RBC subsets of different phenotypes over time, as also observed in some of the patients of this study, are not an exclusive feature of Rh mosaicism but were also reported for hematopoietic chimerism.…”

“…8 Many individuals with spontaneous Rh phenotype splitting or progressive Rh antigen loss were found to suffer from hematologic disease, such as acute or chronic myelogenous leukemia, myeloproliferative disease, or myelodysplastic syndrome, in the majority of cases without detectable cytogenetic abnormalities of chromosome 1. 2,[9][10][11][12][13][14][15] However, spontaneous appearance of D-negative RBCs was also observed in originally D-positive healthy subjects or patients with nonhematologic disease. 11,12,16,17 A potentially serious risk is posed by blood donors with mixtures of D-positive and D-negative RBC subsets erroneously typed D-negative, 18 as their RBC units were demonstrated to induce alloanti-D in D-negative recipients.…”

“…2,[9][10][11][12][13][14][15] However, spontaneous appearance of D-negative RBCs was also observed in originally D-positive healthy subjects or patients with nonhematologic disease. 11,12,16,17 A potentially serious risk is posed by blood donors with mixtures of D-positive and D-negative RBC subsets erroneously typed D-negative, 18 as their RBC units were demonstrated to induce alloanti-D in D-negative recipients. 19 In this study, the molecular background of spontaneous Rh phenotype splitting in 9 patients with hematologic as well as nonhematologic diseases was investigated.…”

Two New Cases of Rh Mosaicism

“…It has been tempting for several workers to directly correlate blood group mosaicism to chromosome changes simultaneously observed in patients with malignant hematologic disorders [2,5,11,13]. The association may be coincidental, however, since one knows the high incidence of many various, versatile, and nonspecific chromosome aberrations in such patients.…”

“…Mannoni et al [14] favored the hypothesis of Rh deletion by finding simple dose results with anti-c and anti-e inaD(-)C(-) component of cells encountered in a patient with probable DCejdce genotype. In the DCe/DcE patient with Rh mosaicism investigated by Callender et al [2] the presumed monosomy of the C+ c-D+ e+ E-population was not supported by any serological evidence ; neither was it in the propositus with simultaneous Rh and Duffy mosaicism reported on by Jenkins and Marsh [9] and Marsh and Chaganti [15]. The case of Fialkow et al [7] showing no mosaicism in fact, probably produces, on the basis of fibroblast culture and family studies, the best evidence in support of monosomy for Rh and 6PGD markers whose loci, furthermore, are known to be linked [19,21].…”