Two New Cases of Rh Mosaicism

Summary. We report a female patient whose Rh phenotype shifted from RhD-positive to RhD-negative over a 3-year period , during which time she was treated with mastectomy (1992) and local irradiation for a low-grade recurrent breast cancer. She was diagnosed with chronic myeloid leukaemia in 1994, and has since then received chemotherapy. The patient was repeatedly typed as O, RhD-positive between 1965 and 1991 and was repeatedly found RhD-negative after 1994. Bcr-Abl transcripts typical of Ph 1 chromosome were detected. Molecular analysis indicated that the patient was heterozygous at the RH locus, carrying one haplotype in which the RHD gene exhibited a single nucleotide deletion (G600) resulting in a frameshift and premature stop codon, and a normal RHCE gene (allele Ce). The second haplotype contained only the RHCE gene (allele ce) and was normal. Further analysis carried out on total leucocytes, purified neutrophils, EBVlymphoblastoid cell line and cultured erythroblasts indicated that the G600 deletion was restricted to the myeloid lineage. No modification of other blood group antigens could be detected. These findings suggest a somatic mutation which most probably occurred in a stem cell common to the myeloid lineage.

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Shift from Rh‐positive to Rh‐negative phenotype caused by a somatic mutation within the RHD gene in a patient with chronic myelocytic leukaemia

Chérif-Zahar

Bony

Steffensen

et al. 1998

Br J Haematol

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

Körmöczi

Dauber

Haas

et al. 2007

Blood

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Red blood cell antigen changes in malignancy: case report and review

Winters

Howard

2001

Immunohematology

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Red blood cell (RBC) antigens represent inherited traits and as such, their expression should be constant throughout the life of an individual. We describe a patient in whom the expression of the Rh D and C antigens was lost due to the development of chronic myelogenous leukemia (CML). For this patient, this represented more than a blood bank curiosity but was of critical importance in determining further treatment of the leukemia.The mechanisms behind changes in RBC antigens due to malignancy are reviewed for a number of antigens, antigen systems, and antigen collections. Previous case reports of RBC antigen changes due to malignancy are summarized.

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Two New Cases of Rh Mosaicism

Cited by 3 publications

References 12 publications

Shift from Rh‐positive to Rh‐negative phenotype caused by a somatic mutation within the RHD gene in a patient with chronic myelocytic leukaemia

Shift from Rh‐positive to Rh‐negative phenotype caused by a somatic mutation within the RHD gene in a patient with chronic myelocytic leukaemia

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

Red blood cell antigen changes in malignancy: case report and review

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