Loss of Rh antigen associated with acquired Rh antibodies and a chromosome translocation in a patient with myeloid metaplasia.
Myeloid metaplasia is a clonal disease of the marrow pluripotent stem cell in which a constant cytogenetic abnormality could result in an altered antigenic characteristic of hematopoietic cells. A 57-yr-old man who had acquired myeloid metaplasia at age 37 was noted to be Rh negative, although blood typing at age 33 was Rh positive. His erythrocytes reacted with anti-c and anti-e, typical for an Rh negative individual. Analysis of 11 metaphase bone marrow cells by G-banding revealed 46 chromosomes with a consistent anomaly in 100% of cells involving chromosomes 1 and 13. The changes were consistent with a reciprocal translocation, with break points at approximately 1p32 and 13q22, although break points at 1p13 and 13q14 were also possible. Since previous cytogenetic data have localized the Rh gene to the short arm of chromosome 1, our data indicate the Rh gene lies within the segment u13 leads to 1p32. Serum of this patient had circulating anti-D and anti-C antibodies. Consequently, this patient lost immunologic tolerance to a "self antigen" after losing the ability to express this antigen.
D002874:Chromosome Mapping; D002900:Chromosomes, Human, 1-3; D002901:Chromosomes, Human, 13-15; D005796:Genes; D006801:Humans; D008297:Male; D008875:Middle Aged; D055728:Primary Myelofibrosis / Q000235:genetics* / Q000276:immunology; D012204:Rh-Hr Blood-Group System / Q000235:genetics* / Q000276:immunology; D014178:Translocation, Genetic
D012204:Rh-Hr Blood-Group System