Molecular basis of RhD-positive/D-negative chimerism in two patients

This study investigated two patients with Rh chimerism: patient A, a healthy individual, and patient B with myelofibrosis. Flow cytometry studies showed two red blood cell populations of Rh phenotypes R1r and rr at percentages of about 25% and 75% respectively. Normal RhD transcript sequences were found following RT-PCR. Genomic DNA (gDNA) showed normal exon, intron, GATA regions and exon/intron boundary sequences except for a single base change in intron 7 (C --> A) of exon 7 in patient A. The major change found in both patients was the absence of RHD exon 9 DNA in gDNA isolated from peripheral blood. These findings suggest a somatic mutation, probably in a stem cell common to the myeloid lineage of both patients, and indicate that patient A may undergo malignant transformation in the future.