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

British Journal of Haematology

Volumn 102, Issue 5, 1998, Pages 1263-1270

  Chérif Zahar, Baya ^a   Bony, Viviane ^a   Steffensen, Rudi ^b   Gane, Pierre ^a   Raynal, Virginie ^a   Goosens, Dominique ^a   Laursen, Jens Skaaning ^b   Varming, Kim ^b   Jersild, Casper ^b   Cartron, Jean Pierre ^a  

^a INSTITUT NATIONAL DE LA TRANSFUSION SANGUINE   (France)

^b AALBORG UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Blood groups; CML; Loss of D antigen; RH locus; Stem cell mutation

Indexed keywords

RHESUS ANTIGEN;

ANTIGEN EXPRESSION; ARTICLE; BLOOD SAMPLING; CHROMOSOME ABERRATION; CHRONIC MYELOID LEUKEMIA; GENE DELETION; GENE LOCUS; HAPLOTYPE; HUMAN; HUMAN CELL; PHENOTYPE; PHILADELPHIA 1 CHROMOSOME; PRIORITY JOURNAL; SOMATIC MUTATION; STEM CELL;

AGED; AMINO ACID SEQUENCE; BASE SEQUENCE; BLOTTING, SOUTHERN; ERYTHROBLASTS; FEMALE; GENE DELETION; HUMANS; LEUKEMIA, MYELOID, CHRONIC; LYMPHOCYTES; MOLECULAR SEQUENCE DATA; MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RH-HR BLOOD-GROUP SYSTEM;

EID: 7344259638     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1998.00895.x     Document Type: Article

References (47)

1. Anstee, D.J. & Tanner, M.J.A. (1993) Biochemical aspects of the blood group Rh (Rhesus) antigens. Baillière's Clinical Haematology, 6, 401-422.
2. u), and partial D phenotypes as determined by multiplex polymerase chain reaction analysis of the RHD gene. Blood, 89, 2568-2577.
3. Bennett, P., Le Van Kim, C., Colin, Y., Warwick, R.M., Cherif-Zahar, B., Fisk, N.M. & Cartron, J.P. (1993) Prenatal determination of fetal RhD type by DNA amplification. New England Journal of Medicine, 329, 607-610.
4. Bracey, A.W., McGinniss, M.H., Levine, R.M. & Whang-Peng, J. (1983) Rh mosaicism and aberrant MNSs antigen expression in a patient with chronic myelogenous leukemia. American Journal of Clinical Pathology, 79, 397-401.
5. Callender, S.T., Kay, H.E.M., Lawler, S.D., Millard, R.E., Sanger, R. & Tippett, P.A. (1971) Two populations of Rh groups together with chromosomally abnormal cell lines in the bone marrow. British Medical Journal, i, 31-33.
6. Cartron, J.P. (1994) Defining the Rh blood group antigens; biochemistry and molecular genetics. Blood Reviews, 8, 199-212.
7. Cartron, J.P. & Agre, P. (1993) Rh blood group antigens: protein and gene structure. Seminars in Hematology, 30, 193-208.
8. Cherif-Zahar, B., Bloy, C., Le Van Kim, C., Blanchard, D., Bailly, P., Hermand, P., Salmon, C., Cartron, J.P. & Colin, Y. (1990) Molecular cloning and protein structure of a human blood group Rh polypeptide. Proceedings of the National Academy of Sciences of the United States of America, 87, 6243-6247.
9. Cherif-Zahar, B., Matassi, G., Raynal, V. Gane, P., Mempel, W., Perez, C. & Cartron, J.P. (1998) Molecular defects of the RHCE gene in Rh-deficient individuals of the amorph type. Blood, 92, 639-646.
10. Cherif-Zahar, B., Raynal, V., Le Van Kim, C., D'Ambrosio, A.M., Bailly, P., Cartron, J.P. & Colin, Y. (1993) Structure and expression of the RH locus in the Rh-deficiency syndrome. Blood, 82, 656-662.
11. Colin, Y., Cherif-Zahar, B., Le Van Kim, C., Raynal, V., Van Huffel, V. & Cartron, J.P. (1991) Genetic basis of the RhD-positive and RhD-negative blood group polymorphism as determined by Southern blotting. Blood, 78, 2747-2752.
12. Cooper, B., Tishler, P.V., Atkins, L. & Breg, W.R. (1979) Loss of Rh antigen associated with acquired Rh antibodies and chromosome translocation in a patient with myeloid metaplasia. Blood, 54, 642-647.
13. Cross, N.C.P., Melo, J.V., Feng, L. & Goldman, J.M. (1994) An optimized multiplex polymerase chain reaction (PCR) for detection of BCR-ABL fusion mRNAs in hematological disorders. Leukemia, 8, 186-189.
14. Fauser, A.A. & Messner, H.A. (1978) Granulo-erythropoietic colonies in human bone marrow, peripheral blood and cord blood. Blood, 52, 1243-1248.
15. Fauser, A.A. & Messner, H.A. (1979) Identification of megakaryocytes, macrophages and eosinophils in colonies of human bone marrow containing neutrophilic granulocytes and erythroblasts. Blood, 53, 1023-1027.
16. Fibach, E., Manor, D., Oppenheim, A. & Rachmilewitz, E.A. (1989) Proliferation and maturation of human erythroid progenitors in liquid culture. Blood, 73, 100-103.
17. Fibach, E., Manor, D., Treves, A. & Rachmilewitz, E.A. (1991) Growth of human normal erythroid progenitors in liquid culture: a comparison with colony growth in semisolid culture. International Journal of Cell Cloning, 9, 57-64.
18. Fisher, H.E., Lichtiger, B. & Trujillo, J.M. (1984) Change in expression of Rho(D) antigen in the case of a secondary preleukemia. (Abstract). Proceedings of the 18th Congress of the International Society of Blood Transfusion and 20th Congress of the International Society of Haematology, Munich, p. 162.
19. Garner, R.J., Rembe, A.M. & Landells, M. (1980) Loss of Rho(D) antigen. (Abstract). Transfusion, 20, 619.
20. Garratty, G. (1977) ABO blood groups and their relationship to disease. Cellular Antigens and Disease (ed. by G. Garratty), pp. 1-29. American Association of Blood Banks, Bethesda.
21. Goossens, D., Champomier, G., Rouger, P. & Salmon, C. (1987) Human monoclonal antibodies against blood group antigens. Journal of Immunological Methods, 101, 193-200.
22. Gossens, M. & Kan, Y.Y. (1981) DNA analysis in the diagnosis of hemoglobin disorders. Methods in Enzymology, 76, 805-806.
23. Habibi, B., Lopez, M. & Salmon, C. (1974) Two new cases of Rh mosaicism: selective study of red cell populations. Vox Sanguinis, 27, 232-242.
24. Hakomori, S.I. (1981) Glycosphingolipids in cellular interaction, differentiation, and oncogenesis. Annual Review of Biochemistry, 50, 733-764.
25. Hakomori, S.I. (1995) Histo-blood group antigens as tumor-associated carbohydrate antigens and ligands for cell adhesion. Blood Cell Biochemistry, Vol. 6. Molecular Basis of Major Human Blood Croup Antigens (ed. by J. P. Cartron and P. Rouger), pp. 421-443. Plenum Press, New York.
26. Hakomori, S.I. & Kannagi, R. (1985) Glycosphingolipids as tumor-associated and differentiation markers. Journal of the National Cancer Institute, 71, 231-251.
27. Hakomori, S.I. & Young, W.W. (1978) Tumor-associated glycolipid antigens and modified blood group antigens. Scandinavian Journal of Immunology, 7, 97-117.
28. Jenkins, W.J. & Marsh, W.L. (1965) Somatic mutation affecting the Rhesus and Duffy blood group systems. Transfusion, 5, 6-10.
29. Levan, A., Nichols, W.W. & Hal, B. (1964) Mixture of Rh positive and Rh negative erythrocytes and chromosomal abnormalities in a case of polycythemia. Hereditas, 52, 89-105.
30. Le Van Kim, C., Mouro, I., Brossard, Y., Chavine, J., Cartron, J.P. & Colin, Y. (1994) PCR-based determination of the Rhc and RhE status of fetuses at risk of Rhc and RhE haemolytic disease. British Journal of Haematology, 88, 193-195.
31. Majsky, A. (1967) Some cases of leukaemia with modifications of the D(Rho)-receptor. Neoplasma, 14, 335-344.
32. Mannoni, P., Brack, C., Yvart, J. & Salmon, C. (1970) Anomalie de fonctionnement du locus Rh au cours d'une myélofibrose. Nouvelle Revue Française d'Hématologie, 10, 381-388.
33. Marsh, W.L., Chaganti, R.S.K., Gardner, F.H., Mayer, K., Nowell, P.C. & German, J. (1974) Mapping human autosomes: evidence supporting assignment of rhesus to the short arm of chromosome no. 1. Science, 183, 966-968.
34. Marsh, W.L., Johnson, C.L., DiNapoli, J., Oyen, R., Shraft, W., Hiranandani, J., Jimenez, P. & Jimenez, M. (1980) Two cases of acquired in vivo change in red cell Rh. (Abstract). Transfusion, 20, 619-620.
35. Mertens, G., Gielis, M., Muylle, L. & de Raets, S. (1997) Loss of D and C expression in chronic myelomonocytic leukemia. Transfusion, 37, 880-881.
36. 0(D) antigen in an individual with acute myelogenous leukemia. (Abstract). Transfusion, 33, S85.
37. Muller, A., Seger, J., Garretta, M., Habibi, B., Lopez, M., De Grouchy, J., Salmon, D. & Salmon, C. (1978) Mosaicisme Rh par mutation dans une gémellité monozygote. Revue Française de Transfusion et Immunohématologie, 21, 151-163.
38. Northoff, H., Goldman, S.F., Lattke, H. & Steinbach, P. (1984) A patient, mosaic for Rh and Fy antigens lacking other signs of chimerism or chromosome disorder. Vox Sanguinis, 47, 164-169.
39. Race, R.R. & Sanger, R. (1975) The Rh blood groups. Blood Groups in Man (ed. by R. R. Race and R. Sanger), 6th edn. pp. 178-260. Blackwell Scientific Publications, Oxford.
40. Salaru, N.N.R. & Lay, W.H. (1985) Rh blood group mosaicism in a healthy elderly woman. Vox Sanguinis, 48, 362-365.
41. Salmon, C. (1969) A tentative approach to variations in ABH and associated erythrocyte antigens. Seminars in Hematology, 2, 3-33.
42. Southern, E. (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. Journal of Molecular Biology, 98, 503-517.
43. b blood group polymorphism. Human Genetics, 95, 407-410.
44. Tovey, G.H., Lockyer, J.W. & Tierney, R.B.H. (1961) Changes in Rh grouping reactions in a case of leukaemia. Vox Sanguinis, 6, 628-631.
45. Vainchencker, W., Guichard, J. & Breton-Gorius, J. (1979) Growth of human megakaryocytic colonies in culture from fetal, neonatal and adult peripheral blood cells. Blood Cells, 5, 25-42.
46. Van Brockstaele, D.R., Berneman, Z.N., Muyelle, L., Cole-Dergent, J. & Peetermans, M.C. (1986) Flow cytometric analysis of erythrocytic D antigen density profile. Vox Sanguinis, 51, 40-46.
47. Wada, H., Suda, T., Miura, Y., Kajii, E., Ikamoto, S. & Yamata, Y. (1990) Expression of major blood group antigens on human erythroid cells in a two-phase liquid culture system. Blood, 75, 505-511.