<abstract xmlns="http://www.w3.org/1999/xhtml"><p>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 <italic>RH</italic> 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 <italic>RHD</italic> exons 5, 8, or 10, and intron 4. Very weak amplification was obtained using primers designed to amplify <italic>RHD</italic> exons 3, 4, or 7. Two assays that detect the hybrid <italic>Rhesus box</italic> showed deletion of <italic>RHD.</italic> Amplification of <italic>RHCE</italic> 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 <italic>Rhesus box</italic> and absence of D-specific exons, we conclude that DNA from the patient’s WBCs carries a deleted <italic>RHD.</italic> This explains the molecular mechanism underlying the change from D+ to D–. <italic><bold>Immunohematology</bold></italic><bold> 2008;24:160–164.</bold></p></abstract>

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–. Immunohematology 2008;24:160–164.

<italic>RHD</italic> deletion in a patient with chronic myeloid leukemia

Immunohematology

 deletion in a patient with chronic myeloid leukemia

{"article-title":{"italic":"RHD","content":"deletion in a patient with chronic myeloid leukemia"}}

Anomalous expression of the Rh antigen, D, has occasionally been observed in patients with certain myeloproliferative disorders. Indeed, this phenomenon led to...

RHD deletion in a patient with chronic myeloid leukemia

Article Category: Case Report

Data publikacji: 25 mar 2020

Zakres stron: 160 - 164

DOI: https://doi.org/10.21307/immunohematology-2019-291

Słowa kluczowe
blood groups, CML, Rh, DNA testing, molecular testing

© 2008 A. Murdock, et al., published by Sciendo