Blood Reviews
Volume 22, Issue 2 , Pages 65-74 , March 2008

Advances in the diagnosis and therapy of paroxysmal nocturnal hemoglobinuria

References 

  1. Brodsky RA. Paroxysmal nocturnal hemoglobinuria. In: Hoffman R, Benz EJ Jr., Shattil SJ et al. (Eds.), Hematology: Basic Principles and Practice. Philadelphia: E; 2005;419–427.
  2. Strubing P. Paroxysmale Haemoglobinurie. Deutsche Medicinische Wochenschrift. 1882;8:1–16
  3. Enneking J. Eine neue form intermittierender haemoglobinurie (Haemoglobinuria paroxysmalis nocturia). Klinische Wochenschrift. 1928;7:2045
  4. Ham T. Chronic hemolytic anemia with paroxysmal nocturnal hemoglobinuria. A study of the mechanism of hemolysisin relation to acid-base equilibrium. New England Journal of Medicine. 1937;217:915–917
  5. Pillemer L, Blum L, Lepow I, et al. The properdin system and immunity: Demonstration and isolation of a new serum protein, properdin, and its role in immune phenomena. Science. 1954;120:279–285
  6. Miyata T, Takeda J, Iida Y, et al. The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis. Science. 1993;259:1318–1320
  7. Hillmen P, Hall C, Marsh JC, et al. Effect of eculizumab on hemolysis and transfusion requirements in patients with paroxysmal nocturnal hemoglobinuria. N.Engl.J.Med. 2004;350:552–559
  8. Hillmen P, Young NS, Schubert J, et al. The complement inhibitor eculizumab in paroxysmal nocturnal hemoglobinuria. N.Engl.J.Med. 2006;355:1233–1243
  9. Kinoshita T, Inoue N. Dissecting and manipulating the pathway for glycosylphosphatidylinositol-anchor biosynthesis. Curr.Opin.Chem.Biol. 2000;4:632–638
  10. Inoue N, Watanabe R, Takeda J, Kinoshita T. PIG-C, one of the three human genes involved in the first step of glycosylphosphatidylinositol biosynthesis is a homologue of Saccharomyces cerevisiae GPI2. Biochem.Biophys.Res.Commun. 1996;226:193–199
  11. Kamitani T, Chang HM, Rollins C, Waneck GL, Yeh ET. Correction of the class H defect in glycosylphosphatidylinositol anchor biosynthesis in Ltk- cells by a human cDNA clone. J.Biol.Chem. 1993;268:20733–20736
  12. Watanabe R, Inoue N, Westfall B, et al. The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1. EMBO J. 1998;17:877–885
  13. Murakami Y, Siripanyaphinyo U, Hong Y, et al. The initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-Y, a seventh component. Mol.Biol.Cell. 2005;16:5236–5246
  14. Watanabe R, Murakami Y, Marmor MD, et al. Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2. EMBO J. 2000;19:4402–4411
  15. Watanabe R, Ohishi K, Maeda Y, Nakamura N, Kinoshita T. Mammalian PIG-L and its yeast homologue Gpi12p are N-acetylglucosaminylphosphatidylinositol de-N-acetylases essential in glycosylphosphatidylinositol biosynthesis. Biochem.J. 1999;339(Pt 1):185–192
  16. Bessler M, Mason PJ, Hillmen P, et al. Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene. EMBO Journal. 1994;13:110–117
  17. Takeda J, Miyata T, Kawagoe K, et al. Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. Cell. 1993;73:703–711
  18. Nagarajan S, Brodsky R, Young NS, Medof ME. Genetic defects underlying paroxysmal nocturnal hemoglobinuria that arises out of aplastic anemia. Blood. 1995;86:4656–4661
  19. Takahaski M, Takeda J, Hirose S, et al. Deficient biosynthesis of N-Acetylglucosaminyl-phosphatidylinositol, the first intermediate of glycosyl phosphatidylinositol anchor biosynthesis, in cell lines established from patients with paroxysmal nocturnal hemoglobinuria. J Exp Med. 1993;177:517–521
  20. Ham TH, Dingle JH. 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. 1939;18:657–672
  21. Parker CJ, Baker PJ, Rosse WF. Increased enzymatic activity of the alternative pathway convertase when bound to the erythrocytes of paroxysmal nocturnal hemoglobinuria. J.Clin.Invest. 1982;69:337–346
  22. Medof ME, Kinoshita T, Nussenzweig V. Inhibition of complement activation on the surface of cells after incorporation of decay-accelerating factor (DAF) into their membranes. J Exp Med. 1984;160:1558–1578
  23. Rollins SA, Sims PJ. The complement-inhibitory activity of CD59 resides in its capacity to block incorporation of C9 into membrane C5b-9. J.Immunol. 1990;144:3478–3483
  24. Walport MJ. Complement. First of two parts. N.Engl.J.Med. 2001;344:1058–1066
  25. Meri S, Morgan BP, Davies A, et al. Human protectin (CD59), an 18,000–20,000 MW complement lysis restricting factor, inhibits C5b-8 catalysed insertion of C9 into lipid bilayers. Immunology. 1990;71:1–9
  26. Reiter CD, Wang X, Tanus-Santos JE et al. Cell-free hemoglobin limits nitric oxide bioavailability in sickle-cell disease. Nat.Med. 2002.
  27. Rother RP, Bell L, Hillmen P, Gladwin MT. The clinical sequelae of intravascular hemolysis and extracellular plasma hemoglobin: a novel mechanism of human disease. JAMA. 2005;293:1653–1662
  28. Azizi E, Dror Y, Wallis K. Arginase activity in erythrocytes of healthy and ill children. Clin.Chim.Acta. 1970;28:391–396
  29. Morris CR, Kato GJ, Poljakovic M, et al. Dysregulated arginine metabolism, hemolysis-associated pulmonary hypertension, and mortality in sickle cell disease. JAMA. 2005;294:81–90
  30. Moyo VM, Mukhina GL, Garrett ES, Brodsky RA. Natural history of paroxysmal nocturnal hemoglobinuria using modern diagnostic assays. Br J Haematol. 2004;126:133–138
  31. Grunewald M, Siegemund A, Grunewald A, et al. Plasmatic coagulation and fibrinolytic system alterations in PNH: relation to clone size. Blood Coagul.Fibrinolysis. 2003;14:685–695
  32. Nishimura J, Kanakura Y, Ware RE, et al. Clinical course and flow cytometric analysis of paroxysmal nocturnal hemoglobinuria in the United States and Japan. Medicine (Baltimore). 2004;83:193–207
  33. Hall C, Richards S, Hillmen P. Primary prophylaxis with warfarin prevents thrombosis in paroxysmal nocturnal hemoglobinuria (PNH). Blood. 2003;102:3587–3591
  34. Wiedmer T, Hall SE, Ortel TL, et al. Complement-induced vesiculation and exposure of membrane prothrombinase sites in platelets of paroxysmal nocturnal hemoglobinuria. Blood. 1993;82:1192–1196
  35. Hugel B, Socie G, Vu T, et al. Elevated levels of circulating procoagulant microparticles in patients with paroxysmal nocturnal hemoglobinuria and aplastic anemia. Blood. 1999;93:3451–3456
  36. Ploug M, Plesner T, Ronne E, et al. The receptor for urokinase-type plasminogen activator is deficient on peripheral blood leukocytes in patients with paroxysmal nocturnal hemoglobinuria. Blood. 1992;79:1447–1455
  37. Maroney SA, Cunningham AC, Ferrel J, et al. A GPI-anchored co-receptor for tissue factor pathway inhibitor controls its intracellular trafficking and cell surface expression. J.Thromb.Haemost. 2006;4:1114–1124
  38. Hillmen P, Muus P, Duhrsen U et al. Effect of the complement inhibitor eculizumab on thromboembolism in patients with paroxysmal nocturnal hemoglobinuria. Blood 2007.
  39. Araten DJ, Nafa K, Pakdeesuwan K, Luzzatto L. Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals. Proc.Natl.Acad.Sci.U.S.A. 1999;96:5209–5214
  40. Hu R, Mukhina GL, Piantadosi S, et al. PIG-A mutations in normal hematopoiesis. Blood. 2005;105:3848–3854
  41. Brodsky RA, Vala MS, Barber JP, Medof ME, Jones RJ. Resistance to Apoptosis Caused by PIG-A Gene Mutations in Paroxysmal Nocturnal Hemoglobinuria. Proc Natl Acad Sci USA. 1997;94:8756–8760
  42. Inoue N, Izui-Sarumaru T, Murakami Y et al. Molecular basis of clonal expansion of hematopoiesis in two patients with paroxysmal nocturnal hemoglobinuria (PNH). Blood 2006.
  43. Hall SE, Rosse WF. The use of monoclonal antibodies and flow cytometry in the diagnosis of paroxysmal nocturnal hemoglobinuria. Blood. 1996;87:5332–5340
  44. Brodsky RA, Mukhina GL, Li S, et al. Improved detection and characterization of paroxysmal nocturnal hemoglobinuria using fluorescent aerolysin. Am.J.Clin.Pathol. 2000;114:459–466
  45. Mukhina GL, Buckley JT, Barber JP, Jones RJ, Brodsky RA. Multilineage glycosylphosphatidylinositol anchor deficient hematopoiesis in untreated aplastic anemia. Br J Haematol. 2001;115:476–482
  46. Brodsky RA, Mukhina GL, Nelson KL, et al. Resistance of Paroxysmal Nocturnal Hemoglobinuria Cells to the Glycosylphosphatidylinositol-Binding Toxin Aerolysin. Blood. 1999;93:1749–1756
  47. Dunn DE, Tanawattanacharoen P, Boccuni P, et al. Paroxysmal Nocturnal Hemoglobinuria Cells in Patients with Bone Marrow Failure Syndromes. Ann Intern Med. 1999;131:401–408
  48. Wang H, Chuhjo T, Yamazaki H, et al. Relative increase of granulocytes with a paroxysmal nocturnal haemoglobinuria phenotype in aplastic anaemia patients: the high prevalence at diagnosis. Eur.J.Haematol. 2001;66:200–205
  49. Brodsky RA, Jones RJ. Aplastic anaemia. Lancet. 2005;365:1647–1656
  50. Saso R, Marsh J, Cevreska L, et al. Bone marrow transplants for paroxysmal nocturnal haemoglobinuria. Br.J.Haematol. 1999;104:392–396
  51. Bemba M, Guardiola P, Garderet L, et al. Bone marrow transplantation for paroxysmal nocturnal haemoglobinuria. Br.J.Haematol. 1999;105:366–368
  52. Hegenbart U, Niederwieser D, Forman S, et al. Hematopoietic cell transplantation from related and unrelated donors after minimal conditioning as a curative treatment modality for severe paroxysmal nocturnal hemoglobinuria. Biol.Blood Marrow Transplant. 2003;9:689–697
  53. Takahashi Y, McCoy JP, Carvallo C, et al. In vitro and in vivo evidence of PNH cell sensitivity to immune attack after nonmyeloablative allogeneic hematopoietic cell transplantation. Blood. 2004;103:1383–1390
  54. Young NS, Antonioli E, Rotoli B, et al. Safety and efficacy of the terminal complement inhibitor eculizumab in patients with paroxysmal nocturnal hemoglobinuria: interim SHEPHERD phase III clinical study. [abstract]. Blood. 2006;108:290a

PII: S0268-960X(07)00068-9

doi: 10.1016/j.blre.2007.10.002

Blood Reviews
Volume 22, Issue 2 , Pages 65-74 , March 2008