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

Abstract

Spontaneous Rh phenotype alteration interferes with pretransfusion and prenatal blood group examinations and may potentially indicate hematologic disease. In this study, the molecular background of this biologic phenomenon was investigated.

RHD variants in Flanders, Belgium

“…For this purpose, routine serologic D typing may be efficiently supported by RHD genotyping, as serology cannot discriminate variants that safely can be considered as D+ phenotypes from those that need to be treated as D− recipients. Of note, RHD genotyping is complicated by a wealth of molecular peculiarities, such as RHD ‐ RHCE gene hybrids, RHD ‐null alleles, and Rh mosaicism …”

Acquired RhD mosaicism identifies fibrotic transformation of thrombopoietin receptor‐mutated essential thrombocythemia

“…Several reports have previously documented D‐phenotype splitting in patients with hematologic disorders. Körmöczi and colleagues reported D‐phenotype mosaicism in three cases of hematologic disorders secondary to LOH of chromosome 1. Orlando and coworkers described a case of D‐phenotype splitting in a patient who had myelofibrosis and a neoplastic clone lacking the RHD gene.…”

Single molecule distribution of RhD binding epitopes on ultraflat erythrocyte ghosts

“…Following studies mainly investigated the average density on the bulk level using immunoradiometry, 11 enzyme-linked immunosorbent assay, 12 and flow cytometry. 9,13 They allowed determination of the total number of different D epitopes, often with a focus on genetically variant RhD phenotypes. 14 To provide new insights into structure, assembly and physiological function of red cell molecules, methods providing insights into the cellular distribution at the molecular level appear advantageous.…”