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

Körmöczi, Günther F.; Dauber, E.M.; Haas, Oskar A.; Legler, Tobias J.; Clausen, Frederik Banch; Fritsch, Gerhard; Raderer, Markus; Buchta, Christoph; Petzer, Andreas; Schönitzer, Diether; Mayr, Wolfgang R.; Gassner, Christoph

doi:10.1182/blood-2007-01-068106

Cited by 20 publications

(17 citation statements)

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“…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 …”

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confidence: 99%

RHD variants in Flanders, Belgium

Sandt¹,

Gassner

Emonds³

et al. 2014

Transfusion

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confidence: 99%

RHD variants in Flanders, Belgium

Sandt¹,

Gassner

Emonds³

et al. 2014

Transfusion

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“…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.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2017

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Background Acquired copy-neutral loss of heterozygosity (CN-LOH) has been described in myeloid malignant progression with an otherwise normal karyotype. Case Report A 65 year old woman with MPL-mutated essential thrombocythemia (ET) and progression to myelofibrosis was noted upon routine pre-transplant testing to have mixed field reactivity with anti-D and a historical discrepancy in RhD type. The patient had never received transfusions or transplantation. Results Gel immunoagglutination revealed group A red blood cells (RBCs) and a mixed-field reaction for the RhD phenotype, with a predominant RhD-negative population and a small subset of circulating RBCs carrying the RhD antigen. Subsequent genomic microarray SNP profiling revealed CN-LOH of chromosome 1 p36.33-p34.2, a known molecular mechanism underlying fibrotic progression of MPL-mutated ET. The chromosomal region affected by this CN-LOH encompassed the RHD, RHCE, and MPL genes. We propose a model of chronological molecular events that is supported by RHD zygosity assays in peripheral lymphoid and myeloid-derived cells. Conclusion CN-LOH events that lead to clonal selection and myeloid malignant progression may also affect the expression of adjacent unrelated genes, including those encoding for blood group antigens. Detection of mixed-field reactions and investigation of discrepant blood typing results is important for proper transfusion support of these patients and can provide a useful surrogate marker of myeloproliferative disease progression.

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“…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.…”

Section: Introductionmentioning

confidence: 99%

Single molecule distribution of RhD binding epitopes on ultraflat erythrocyte ghosts

et al. 2020

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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.

Cited by 20 publications

References 50 publications

RHD variants in Flanders, Belgium

RHD variants in Flanders, Belgium

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

Single molecule distribution of RhD binding epitopes on ultraflat erythrocyte ghosts

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