Rh Blood Group Mosaicism in a Healthy Elderly Woman

Abstract

One example of Rh blood group mosaicism showing a mixed cell population of CcDe and cde red blood cells was found in tests on 552 normal individuals aged 60 years or more. The mosaic person was uninformative for other chromosome 1 markers having the phenotypes Fy (a-b+), 6-PGDA and PGM1(1). Dosage of the activity of intraerythrocytic ENO-1 and 6-PGD of both cell populations fell in the normal range. Chromosome studies on peripheral lymphocytes did not reveal abnormalities. No definite conclusion could be drawn on the mechanism responsible for the phenomenon.

Two cases of mosaic RhD blood-group phenotypes and paternal isodisomy for chromosome 1

“…If we assume that case 1 had mosaic double UPD1 (maternal and paternal isodisomies for chromosome 1 without any biparental-disomic cells) as suggested by¯ow cytometric analysis, much more complex events would have occurred, e.g., a normal fertilization followed by migration of chromosome homologs 1 to the opposite poles at the ®rst mitotic division, together with non-segregation of the sister chromatids, resulting in two cell populations -one with maternal complete isodisomy 1 and the other with paternal isodisomy 1. To our knowledge, three individuals have been reported with mosaicism (often called``chimeric'' in previous papers) for the RhD and Duffy blood types [Jenkins and Marsh, 1964;Northoff et al, 1984;Salaru and Lay, 1985]. Since the genetic loci for the Rh and the Duffy (Fy) systems are at 1p36.2-p34 and at 1q21-q22, respectively, the occurrence of mosaicism involving both blood groups is not surprising.…”

“…The child had two red cell populations: DCe/dce and Fy(a ), and cde/cde and Fy(a À ). Another individual [Northoff et al, 1984] [Salaru and Lay, 1985] showed a mixed cell population of DCe/Dce and Fy(a À b ) haplotype and cde/cde and Fy(a À b ) haplotype. In all these three persons, one cell population was consistent with UPD1.…”

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

“…In fact, the median age of the patients of this study was 63 years, and serologic screening for Rh phenotype splitting among apparently healthy persons 60 years or older had revealed a considerable frequency of at least 1 in 500. 17 Importantly, Rh mosaicism in apparently healthy subjects may have clinically relevant consequences, 18 as already minor proportions of D-positive RBCs in blood units from donors erroneously typed D-negative were demonstrated to incite anti-D immunization in D-negative recipients. 19 Loss of Rh antigens, after ABO, 50 is the second most commonly reported blood group alteration associated with hematologic disease.…”

“…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.…”

Quantitation of RHD by real‐time polymerase chain reaction for determination of RHD zygosity and RHD mosaicism/chimerism: an evaluation of four quantitative methods

“…6 Mosaicism for RHD, caused by a genetic change in cells, originating from the same zygote that founded the individual, has been reported in healthy individuals as well as in patients with myeloid leukemia. [7][8][9] Chimerism, the occurrence of cells originating from more than one zygote in one individual, is, for example, observed after blood transfusion and among twins. [10][11][12] The aim of this work was to develop a robust and exact method for determination of RHD hemi-and homozygosity suitable for fast analysis and few samples a time, which requires as few control samples per setup as possible.…”