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Paroxysmal Nocturnal Hemoglobinuria

  • W. F. Rosse
Part of the Current Topics in Microbiology and Immunology book series (CT MICROBIOLOGY, volume 178)

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is a clonal disorder of the hematopoietic stem cell (Hartmann and Arnold 1977) resulting in the production of blood cells which are defective in that they lack or are markedly deficient in glycan-phosphatidylinositol (GPI)-linked surface proteins (Rosse 1990a). To date, 11 such proteins have been found to be missing or deficient on the abnormal cells (Auditore et al. 1960; Kunstling and Rosse 1969; Beck and Valentine 1951; Burroughs et al. 1988; Nicholson-Weller et al. 1983a; Pangburn et al. 1983; Holguin et al. 1989a; Hänsch et al. 1987; Selvaraj et al. 1987,1988; Simmons et al. 1989; van der Schoot et al. 1989) (see Table 1). Other GPI-linked proteins that have not been identified are probably also missing.

Keywords

Paroxysmal Nocturnal Hemoglobinuria Complement Regulatory Protein Decay Accelerate Factor Paroxysmal Nocturnal Hemoglobinuria Clone Paroxysmal Nocturnal Hemoglobinuria Patient 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. Auditore JV, Hartmann RC, Flexner JM, Balchum OJ (1960) The erythrocyte acetylcholinesterase enzyme in paroxysmal nocturnal hemoglobinuria. Arch Pathol 69: 534–543PubMedGoogle Scholar
  2. Beck WS, Valentine WN (1951) Biochemical studies on leucocytes. II. Phosphatase activity in chronic lymphatic leukemia, acute leukemia, and miscellaneous hematologic conditions. J Lab Clin Med 38: 245–253PubMedGoogle Scholar
  3. Bierer BE, Barbosa J, Herrmann S, Burakoff SJ (1988) Interaction of CD2 with its ligand, LFA-3, in human T cell proliferation. J Immunol 140: 3358–3363PubMedGoogle Scholar
  4. Blum SF, Gardner FH (1966) Intestinal infarction in paroxysmal nocturnal hemoglobinuria. N Engl J Med 274: 1137–1138CrossRefGoogle Scholar
  5. Brubaker L, Essig LJ, Mengel CE (1977) Neutrophil life span in paroxysmal nocturnal hemoglobinuria. Blood 50: 657–662PubMedGoogle Scholar
  6. Bryant PM, Hall SE, Cole JS, Greenberg CS, Rosse WF (1988) Marked sensitivity of paroxysmal nocturnal hemoglobinuria (PNH) platelets to thrombin: relationship to complement activation. Blood [Suppl] 72: 317aGoogle Scholar
  7. Burroughs SF, Devine DV, Kaplan ME (1988) Paroxysmal nocturnal hemoglobinuria neutrophils deficient in decay accelerating factor are also deficient in alkaline phosphatase. Blood 71: 1086–1089PubMedGoogle Scholar
  8. Carothers DJ, Hazra SV, Andreson SW, Medof ME (1990) Synthesis of aberrant decay-accelerating factor proteins by affected paroxysmal nocturnal hemoglobinuria leucocytes. J Clin Invest 85: 47–54PubMedCrossRefGoogle Scholar
  9. Chow F-L, Telen MT, Rosse WF (1986) The separation of the populations of red cells in paroxysmal nocturnal hemoglobinuria by monoclonal antibody to acetylcholinesterase. Blood 67: 893–897PubMedGoogle Scholar
  10. Clark DA, Butler SA, Braren V, Hartmann RC, Jenkins DE Jr (1981) The kidneys in paroxysmal nocturnal hemoglobinuria. Blood 57: 83–89PubMedGoogle Scholar
  11. Dacie JV (1963) Paroxysmal nocturnal haemoglobinuria. Proc R Soc Med 56: 587–596PubMedGoogle Scholar
  12. Dacie JV, Firth D (1943) Blood transfusion in nocturnal haemoglobinuria. Br Med J i: 626CrossRefGoogle Scholar
  13. Dacie JV, Lewis SM (1961) Paroxysmal nocturnal hemoglobinuria: variation in clinical severity and association with bone marrow hypoplasia. Br J Haematol 7: 442–457PubMedCrossRefGoogle Scholar
  14. Dacie JV, Lewis SM (1972) Paroxysmal nocturnal hemoglobinuria, clinical manifestations, hematology and nature of the disease. Ser Hematol 5: 3–23Google Scholar
  15. Dameshek W (1969) Forward and a proposal for considering paroxysmal nocturnal hemoglobinuria (PNH) as a “candidate” myeloproliferative disorder. Blood 33: 263–264PubMedGoogle Scholar
  16. Devine DV, Siegel RS, Rosse WF (1987a) Interactions of the platelets in paroxysmal nocturnal hemoglobinuria with complement. J Clin Invest 79: 131–137PubMedCrossRefGoogle Scholar
  17. Devine DV, Gluck WL, Rosse WF, Weinberg JB (1987b) Acute myeloblastic leukemia in paroxysmal nocturnal hemoglobinuria: evidence of evolution for the abnormal PNH clone. J Clin Invest 79: 314–317PubMedCrossRefGoogle Scholar
  18. Devine DV, Rosse WF (1991) Deficiency of 5′-ectonucleotidase on the lymphocytes in paroxysmal nocturnal hemoglobinuria, (to be published)Google Scholar
  19. Dixon RH, Rosse WF (1977) Mechanism of complement activation on human blood platelets in vitro. J Clin Invest 59: 360–368PubMedCrossRefGoogle Scholar
  20. Grossman JA, McDermott WV Jr (1974) Paroxysmal nocturnal hemoglobinuria associated with hepatic and portal venous thrombosis. Am J Surg 127: 733–736PubMedCrossRefGoogle Scholar
  21. Gull WW (1866) A case of intermittent haematinuria, with remarks. Guy’s Hosp Rep 12: 381–392Google Scholar
  22. Ham TH (1937) Chronic hemolytic anemia with paroxysmal nocturnal hemoglobinuria. A study of the mechanism of hemolysis in relation to acid-base equilibrium. N Engl J Med 217: 915–917CrossRefGoogle Scholar
  23. Ham TH, Dingle JH (1939) Studies on destruction of red blood cells. II. Chronic hemolytic anemia with paroxysmal nocturnal hemoglobinuria: certain immunological aspects of the hemolytic mechanism with special reference to serum complement. J Clin Invest 18: 657–672PubMedCrossRefGoogle Scholar
  24. Hänsch GM, Schonermark S, Roelcke D (1987) Paroxysmal nocturnal hemoglobinuria type III. Lack of an erythrocyte membrane protein restricting the lysis of C5b-9. J Clin Invest 80: 7–12PubMedCrossRefGoogle Scholar
  25. Hartmann RC, Arnold AB (1977) Paroxysmal nocturnal hemoglobinuria as a clonal disorder. Annu Rev Med 28: 187–194PubMedCrossRefGoogle Scholar
  26. Hartmann RC, Luther AB, Jenkins DE Jr, Tenorio LE, Saba HI (1980) Fulminant hepatic venous thrombosis (Budd-Chiari syndrome) in paroxysmal nocturnal hemoglobinuria: definition of a medical emergency. Johns Hopkins Med J 146: 247–254PubMedGoogle Scholar
  27. Hijmans van den Bergh AA (1911) Ictere hemolytique avec crises hemoglobinuriques. Fragilite globulaire. Rev Med 31: 63–69Google Scholar
  28. Hirsch VJ, Neubach PA, Parker DM, Reese MH, Stone MJ (1981) Paroxysmal nocturnal hemoglobinuria. Termination in acute myelomonocytic leukemia and reappearance after leukemic remission. Arch Intern Med 141: 525–527PubMedCrossRefGoogle Scholar
  29. Holden D, Lichtman H (1969) Paroxysmal nocturnal hemoglobinuria with acute leukemia. Blood 33: 283–286PubMedGoogle Scholar
  30. Holguin MH, Wilcox LA, Bernshaw NJ, Rosse WF, Parker CJ (1989a) Relationship between the membrane inhibitor of reactive lysis and the erythrocyte phenotypes of paroxysmal nocturnal hemoglobinuria. J Clin Invest 84: 1387–1394PubMedCrossRefGoogle Scholar
  31. Holguin MH, Frederick LR, Bernshaw NJ, Wilcox LA, Parker CJ (1989b) Isolation and characterization of a membrane protein from normal human erythrocytes that inhibits reactive lysis of the erythrocytes of paroxysmal nocturnal hemoglobinuria. J Clin Invest 84: 7–17PubMedCrossRefGoogle Scholar
  32. Horler AR, Shaw MT, Thompson RB (1970) Budd-Chiari syndrome as a complication of paroxysmal nocturnal hemoglobinuria. Postgrad Med J 46: 618PubMedCrossRefGoogle Scholar
  33. Jenkins DE Jr, Hartmann RC (1969) Paroxysmal nocturnal hemoglobinuria terminating in acute myeloblastic leukemia. Blood 33: 274–282PubMedGoogle Scholar
  34. Johnson RV, Kaplan SR, Blailock ZR (1970) Cerebral venous thrombosis in paroxysmal nocturnal hemoglobinuria. Marchiafava-Micheli syndrome. Neurology 20: 681–686PubMedGoogle Scholar
  35. Katahira J, Masako A, Oshimi K, Mizoguchi H, Okada M (1983) Paroxysmal nocturnal hemoglobinuria terminating in TdT-positive acute leukemia. Am J Hematol 14: 79–87PubMedCrossRefGoogle Scholar
  36. Kaufmann RW, Schechter GP, McFarland W (1969) Paroxysmal nocturnal hemoglobinuria terminating in acute granulocytic leukemia. Blood 22: 287–291Google Scholar
  37. Kinoshita T, Medof ME, Silber R, Nussenzweig V (1985) Distribution of decay accelerating factor in the peripheral blood of normal individuals and patients with paroxysmal nocturnal hemoglobinuria. J Exp Med 162: 75–92PubMedCrossRefGoogle Scholar
  38. Kunstling TR, Rosse WF (1969) Erythrocyte acetylcholinesterase deficiency in paroxysmal nocturnal hemoglobinuria (PNH)-a comparison of the complement-sensitive and -insensitive populations. Blood 33: 607–616PubMedGoogle Scholar
  39. Mahoney JF, Urakaze M, Hall S, DeGasperi R, Chang H-M, Warren CD, Nicholson-Weller A, Rosse WF, Yeh ETH (1991) Defective glycosylphosphatidylinositol anchor synthesis in paroxysmal nocturnal hemoglobinuria. Clin Res 39: 210a (abstract)Google Scholar
  40. Marchiafava E (1928) Anemia emolitica con emosiderinuria perpetua. Policlinico, Sez Med 35: 109Google Scholar
  41. May JE, Frank MM, Rosse WF (1973) Alternate complement-pathway-mediated lysis induced by magnesium. N Engl J Med 298: 705–709CrossRefGoogle Scholar
  42. Medof ME, Kinoshita T, Nussenzweig V (1984) Inhibition of complement activation on the surface of cells after incorporation of decay-accelerating factor (DAF) into their membranes. J Exp Med 160: 1558–1578PubMedCrossRefGoogle Scholar
  43. Medof ME, Gottleib A, Kinoshita T, Hall S, Silber R, Nussenzweig V, Rosse WF (1987) Relationship between decay accelerating factor deficiency, diminished acetylcholinesterase activity, and defective terminal complement pathway restriction in paroxysmal nocturnal hemoglobinuria erythrocytes. J Clin Invest 80: 165–174PubMedCrossRefGoogle Scholar
  44. Meri S, Morgan BP, Davies A, Daniels RH, Olavesen MG, Waldmann H, Lachmann PJ (1990) Human protectin (CD59), an 18000–20000 MW complement lysis restricting factor, inhibits C5b-8 catalyzed insertion of C9 into lipid bilayers. Immunology 71: 1–9PubMedGoogle Scholar
  45. Nicholson-Weller A, March JP, Rosenfeld SI, Austen KF (1983a) Affected erythrocytes of patients with paroxysmal nocturnal hemoglobinuria are deficient in the complement regulatory protein, decay accelerating factor. Proc Natl Acad Sci USA 80: 5430–5434CrossRefGoogle Scholar
  46. Nicholson-Weller A, Spicer DB, Austen KF (1983b) Deficiency of the complement regulatory protein “decay accelerating factor, ” on membranes of granulocytes, monocytes, and platelets in paroxysmal nocturnal hemoglobinuria. N Engl J Med 312: 1091–1097CrossRefGoogle Scholar
  47. Pangburn MK, Schreiber RD, Muller-Eberhard HJ (1983) Deficiency of an erythrocyte membrane protein with complement regulatory activity in paroxysmal nocturnal hemoglobinuria. Proc Natl Acad Sci USA 80: 5430–5434PubMedCrossRefGoogle Scholar
  48. Peytremann R, Rhodes RS, Hartmann RC (1972) Thrombosis in paroxysmal nocturnal hemoglobinuria (PNH) with particular reference to progressive diffuse hepatic venous thrombosis. Ser Haematol 5: 115–136PubMedGoogle Scholar
  49. Rietschel RL, Lewis CW, Simmons RA, Phyliky RL (1978) Skin lesions in paroxysmal nocturnal hemoglobinuria. Arch Dermatol 114: 560–563PubMedCrossRefGoogle Scholar
  50. Rollins SA, Sims PJ (1990) The complement-inhibitory activity of CD59 resides in its capacity to block incorporation of C9 into membrane C5b-9. J Immunol 144: 3478–3483PubMedGoogle Scholar
  51. Rosse WF (1971) The line-span of complement-sensitive and -insensitive red cells in paroxysmal nocturnal hemoglobinuria. Blood 37: 556–562PubMedGoogle Scholar
  52. Rosse WF (1980) Paroxysmal nocturnal hemoglobinuria-present status and future prospects. West J Med 132: 219–228PubMedGoogle Scholar
  53. Rosse WF (1985) Paroxysmal nocturnal hemoglobinuria in aplastic anemia. Clin Haematol 14: 105–125PubMedGoogle Scholar
  54. Rosse WF (1990a) Phosphatidylinositol-linked proteins and paroxysmal nocturnal hemoglobinuria. Blood 75: 1595–1601PubMedGoogle Scholar
  55. Rosse WF (1990b) Paroxysmal nocturnal hemoglobinuria. In: Clinical immunohematology: basic concepts and clinical applications. Blackwell, Boston, pp 593–648Google Scholar
  56. Rosse WF, Dacie JV (1966) Immune lysis of normal human and paroxysmal nocturnal hemoglobinuria red blood cells. I. The sensitivity of PNH red cells to lysis by complement and specific antibody. J Clin Invest 45: 736–748PubMedCrossRefGoogle Scholar
  57. Rosse WF, Parker CJ (1986) Paroxysmal nocturnal haemoglobinuria. Clinics in Haemat 14: 105–125Google Scholar
  58. Rosse WF, Adams JP, Thorpe AM (1974a) The population of cells in paroxysmal nocturnal hemoglobinuria of intermediate sensitivity to complement lysis-significance and mechanism of increased immune lysis. Br J Haematol 28: 181–190PubMedCrossRefGoogle Scholar
  59. Rosse WF, Logue GL, Adams J, Crookston JH (1974b) Mechanisms of immune lysis of the red cells in hereditary erythroblastic multinuclearity with a positive acidified serum test and paroxysmal nocturnal hemoglobinuria. J Clin Invest 53: 31–43PubMedCrossRefGoogle Scholar
  60. Rosse WF, Hoffman S, Campbell M, Borowitz M, Moore JO, Parker CJ (1991) The erythrocytes in paroxysmal nocturnal hemoglobinuria of intermediate sensitivity to complement lysis. Br J Haematol (to be published)Google Scholar
  61. Rouault TA, Rosse WF, Bell S, Shelburne J (1978) Differences in the terminal steps of complement lysis of normal and paroxysmal nocturnal hemoglobinuria red cells. Blood 51: 325–330PubMedGoogle Scholar
  62. Sears DA, Anderson PR, Foy AL, Williams HL, Crosby WH (1966) Urinary iron excretion and renal metabolism of hemoglobin in hemolytic diseases. Blood 28: 708–725PubMedGoogle Scholar
  63. Selvaraj P, Dustin ML, Silber R, Low MG, Springer TA (1987) Deficiency of lymphocyte function- associated antigens 3 (LFA-3) in paroxysmal nocturnal hemoglobinuria. Functional correlates and evidence for a phosphatidylinositol membrane anchor. J Exp Med 166: 1011–1025PubMedCrossRefGoogle Scholar
  64. Selvaraj P, Rosse WF, Silber R, Springer TA (1988) The major Fc receptor in blood has a phosphotidylinositol anchor and is deficient in paroxysmal nocturnal hemoglobinuria. Nature 333: 565–567PubMedCrossRefGoogle Scholar
  65. Simmons DL, Tan S, Tenen DG, Nicholson-Weller A, Seed B (1989) Monocyte antigen CD14 is a phospholipid anchored membrane protein. Blood 73: 284–289PubMedGoogle Scholar
  66. Sims PJ, Faioni EM, Wiedmer T, Shattil SJ (1988) Complement proteins C5b-9 cause release of membrane vesicles from the platelet surface that are enriched in the membrane receptor for coagulation factor Va and express prothrombinase activity. J Biol Chem 263: 18205–18212PubMedGoogle Scholar
  67. Sims PJ, Rollins SA, Wiedmer T (1989) Regulatory control of complement on blood platelets. Modulation of platelet procoagulant responses by a membrane inhibitor of the C5b-9 complex. J Biol Chem 264: 17049–17057PubMedGoogle Scholar
  68. Sirchia G, Lewis SM (1975) Paroxysmal nocturnal haemoglobinuria. Clin Haematol 4: 199–299PubMedGoogle Scholar
  69. Stafford HA, Tykocinski ML, Lublin DM, Holers VM, Rosse WF, Atkinson JP, Medof ME (1988) Normal polymorphic variations and transcription of the decay accelerating factor gene in paroxysmal nocturnal hemoglobinuria cells. Proc Natl Acad Sci USA 85: 880–884PubMedCrossRefGoogle Scholar
  70. Sultan C, Marquet M, Joffroy Y (1973) Etude de dysmyelopoieses acquises indipathiques en culture de moelle in vitro. Nouv Rev Fr Hematol 13: 431–436PubMedGoogle Scholar
  71. Tse AGD, Berklay AN, Watts A, Williams AF (1985) A glycophospholipid tail at the carboxyl terminus of the Thy-1 glycoprotein of neurons and thymocytes. Science 230: 1003–1008PubMedCrossRefGoogle Scholar
  72. Tumen J, Kline LB, Fay J, Scullin D, Reisner E, Rosse WF, Huang A (1980) Complement sensitivity of paroxysmal nocturnal hemoglobinuria bone marrow cells. Blood 55: 1040–1046PubMedGoogle Scholar
  73. Van der Schoot CE, Huizinga TWJ, Gadd S, Majdic O, Wijmans R, Knapp W, von dem Borne AEGK (1989) Identification of three novel Pl-linked proteins on granulocytes. In: Knapp W, Dorken B, Gilks WR, Rieber EP, Schmidt RE, Stein H, von dem Borne AEGK (eds) Leucocyte typing IV: white cell differentiation antigens. Oxford University Press, Oxford, pp 887–891Google Scholar
  74. Waneck Cl, Sherman PW, Kincade PW, Low MG, Flavell RA (1988) Molecular mapping of signals in the Qa-2 antigen required for attachment of the phosphatidylinositol membrane anchor. Proc Natl Acad Sci USA 85: 577–581PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1992

Authors and Affiliations

  • W. F. Rosse
    • 1
  1. 1.Division of Hematology/OncologyDuke University School of MedicineDurhamUSA

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