Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023473 (chronic myeloid leukemia)
 18,916 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a female patient whose Rh phenotype shifted from RhD-positive to RhD-negative over a 3-year period (1991-94), 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 Ph1 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, EBV-lymphoblastoid 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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PMID:Shift from Rh-positive to Rh-negative phenotype caused by a somatic mutation within the RHD gene in a patient with chronic myelocytic leukaemia. 975 55

Anomalous expression of the Rh antigen, D, has occasionally been observed in patients with certain myeloproliferative disorders. Indeed, this phenomenon led to the tentative assignment of RH to the short arm of chromosome 1. PCR-based analyses were performed on DNA from an 82-year-old D+ Caucasian patient with chronic myeloid leukemia after her RBCs became D-. For nearly 7 years, the patient's RBCs typed as strongly D+, but in March 2006, they typed weakly D+ and in August 2006 typed D- by both direct hemagglutination and the IAT. The D- typing persisted until the patient's death in September 2006. To study the underlying cause of the change in D type, PCR-based assays were performed on DNA extracted from peripheral WBCs from the patient's sample collected in August 2006. No amplification was obtained using primers designed to amplify RHD exons 5, 8, or 10, and intron 4. Very weak amplification was obtained using primers designed to amplify RHD exons 3, 4, or 7. Two assays that detect the hybrid Rhesus box showed deletion of RHD. Amplification of RHCE in the patient's DNA was as efficient as that of control samples, and multiplex and PCR-RFLP assays predicted her RBCs would be C-E-c+e+. Based on finding a hybrid Rhesus box and absence of D-specific exons, we conclude that DNA from the patient's WBCs carries a deleted RHD. This explains the molecular mechanism underlying the change from D+ to D-.
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PMID:RHD deletion in a patient with chronic myeloid leukemia. 1985 19