Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-586b7cd67f-t7czq Total loading time: 0 Render date: 2024-11-29T10:59:22.604Z Has data issue: false hasContentIssue false

Chapter 19 - Paroxysmal Nocturnal Hemoglobinuria

from Section 3, Part E - Hypoplastic Anemias

Published online by Cambridge University Press:  18 April 2018

By
Robert A. Brodsky
Edited by
Edward J. Benz, Jr. ,
Nancy Berliner  and
Fred J. Schiffman
Edward J. Benz, Jr.
Affiliation:
Dana Farber Cancer Institute
Nancy Berliner
Affiliation:
Brigham and Women's Hospital, Boston
Fred J. Schiffman
Affiliation:
Children's Hospital, Boston
Get access

Summary

A summary is not available for this content so a preview has been provided. Please use the Get access link above for information on how to access this content.
Image of the first page of this content. For PDF version, please use the ‘Save PDF’ preceeding this image.'
Type
Chapter
Information
Anemia
Pathophysiology, Diagnosis, and Management
 , pp. 137 - 142
Publisher: Cambridge University Press
Print publication year: 2017

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Hillmen, P, Lewis, SM, Bessler, M, Luzzatto, L, Dacie, JV. Natural history of paroxysmal nocturnal hemoglobinuria. N Engl J Med. 1995; 333:1253–1258.Google Scholar
Socie, G, Mary, JY, de Gramont, A, Rio, B, Leporrier, M, Rose, C, et al. Paroxysmal nocturnal haemoglobinuria: long-term follow-up and prognostic factors. Lancet. 1996 Aug 31; 348(9027):573–577.CrossRefGoogle ScholarPubMed
Moyo, VM, Mukhina, GL, Garrett, ES, Brodsky, RA. Natural history of paroxysmal nocturnal hemoglobinuria using modern diagnostic assays. Brit J Haematol. 2004; 126:133–138.CrossRefGoogle ScholarPubMed
Brodsky, RA. Narrative review: paroxysmal nocturnal hemoglobinuria: the physiology of complement-related hemolytic anemia. Ann Intern Med. 2008 Apr 15; 148(8):587–595.Google Scholar
Miyata, T, Takeda, J, Iida, Y, Yamada, N, Inoue, N, Takahashi, M, et al. The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis. Science. 1993; 259:1318–1320.CrossRefGoogle ScholarPubMed
Miyata, T, Yamada, N, Iida, Y, Nishimura, J, Takeda, J, Kitani, T, et al. Abnormalities of PIG-A transcripts in granulocytes from patients with paroxysmal nocturnal hemoglobinuria. N Engl J Med. 1994; 330:249–255.CrossRefGoogle ScholarPubMed
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.CrossRefGoogle ScholarPubMed
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.Google Scholar
Luzzatto, L, Bessler, M, Rotoli, B. Somatic mutations in paroxysmal nocturnal hemoglobinuria: A blessing in disguise? Cell. 1997; 88(January 10):1–4.CrossRefGoogle ScholarPubMed
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.Google Scholar
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 May 1; 144(9):3478–3483.CrossRefGoogle ScholarPubMed
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 Apr 6; 293(13):1653–1662.CrossRefGoogle ScholarPubMed
Hall, SE, Rosse, WF. The use of monoclonal antibodies and flow cytometry in the diagnosis of paroxysmal nocturnal hemoglobinuria. Blood. 1996; 87:5332–5340.CrossRefGoogle ScholarPubMed
Borowitz, MJ, Craig, FE, DiGiuseppe, JA, Illingworth, AJ, Rosse, W, Sutherland, DR, et al. Guidelines for the diagnosis and monitoring of paroxysmal nocturnal hemoglobinuria and related disorders by flow cytometry. Cytometry B Clin Cytom. 2010;78(4):211–230.Google Scholar
Brodsky, RA, Mukhina, GL, Nelson, KL, Lawrence, TS, Jones, RJ, Buckley, JT. Resistance of paroxysmal nocturnal hemoglobinuria cells to the glycosylphosphatidylinositol-binding toxin aerolysin. Blood. 1999; 93(5):1749–1756.CrossRefGoogle Scholar
Brodsky, RA, Mukhina, GL, Li, S, Nelson, KL, Chiurazzi, PL, Buckley, JT, et al. Improved detection and characterization of paroxysmal nocturnal hemoglobinuria using fluorescent aerolysin. Am J Clin Pathol. 2000 Sep;114(3):459–466.Google Scholar
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 USA. 1999 Apr 27; 96(9):5209–5214.Google Scholar
Hu, R, Mukhina, GL, Piantadosi, S, Barber, JP, Jones, RJ, Brodsky, RA. PIG-A mutations in normal hematopoiesis. Blood. 2005 May 15; 105(10):3848–3854.Google Scholar
Pu, JJ, Hu, R, Mukhina, GL, Carraway, HE, McDevitt, MA, Brodsky, RA. The small population of PIG-A mutant cells in myelodysplastic syndromes do not arise from multipotent hematopoietic stem cells. Haematologica. 2012; 97(8):1225–1233.CrossRefGoogle Scholar
Pu, JJ, Mukhina, G, Wang, H, Savage, WJ, Brodsky, RA. Natural history of paroxysmal nocturnal hemoglobinuria clones in patients presenting as aplastic anemia. Eur J Haematol. 2011 Jul;87(1):37–45.CrossRefGoogle ScholarPubMed
Wiedmer, T, Hall, SE, Ortel, TL, Kane, WH, Rosse, WF, Sims, PJ. Complement-induced vesiculation and exposure of membrane prothrombinase sites in platelets of paroxysmal nocturnal hemoglobinuria. Blood. 1993; 82(4):1192–1196.Google Scholar
Hugel, B, Socie, G, Vu, T, Toti, F, Gluckman, E, Freyssinet, JM, et al. Elevated levels of circulating procoagulant microparticles in patients with paroxysmal nocturnal hemoglobinuria and aplastic anemia. Blood. 1999 May 15; 93(10):3451–3456.CrossRefGoogle ScholarPubMed
Ploug, M, Plesner, T, Ronne, E, Ellis, V, Hoyer-Hansen, G, Hansen, NE, et al. The receptor for urokinase-type plasminogen activator is deficient on peripheral blood leukocytes in patients with paroxysmal nocturnal hemoglobinuria. Blood. 1992 Mar 15; 79(6):1447–1455.CrossRefGoogle ScholarPubMed
Maroney, SA, Cunningham, AC, Ferrel, J, Hu, R, Haberichter, S, Mansbach, CM, et al. A GPI-anchored co-receptor for tissue factor pathway inhibitor controls its intracellular trafficking and cell surface expression. J Thromb Haemost. 2006 May;4(5):1114–1124.Google Scholar
Hillmen, P, Elebute, M, Kelly, R, Urbano-Ispizua, A, Hill, A, Rother, RP, et al. Long-term effect of the complement inhibitor eculizumab on kidney function in patients with paroxysmal nocturnal hemoglobinuria. Am J Hematol. 2010 Aug;85(8):553–559.CrossRefGoogle ScholarPubMed
Hillmen, P, Young, NS, Schubert, J, Brodsky, RA, Socie, G, Muus, P, et al. The complement inhibitor eculizumab in paroxysmal nocturnal hemoglobinuria. N Engl J Med. 2006 Sep 21; 355(12):1233–1243.CrossRefGoogle ScholarPubMed
Brodsky, RA, Young, NS, Antonioli, E, Risitano, AM, Schrezenmeier, H, Schubert, J, et al. Multicenter phase 3 study of the complement inhibitor eculizumab for the treatment of patients with paroxysmal nocturnal hemoglobinuria. Blood. 2008 Feb 15; 111(4):1840–1847.Google Scholar
Hillmen, P, Muus, P, Duhrsen, U, Risitano, AM, Schubert, J, Young, NS, et al. The terminal complement inhibitor eculizumab reduces thrombosis in patients with paroxysmal nocturnal hemoglobinuria (abstract). Blood. 2006; 106:40a–41a.Google Scholar
Saso, R, Marsh, J, Cevreska, L, Szer, J, Gale, RP, Rowlings, PA, et al. Bone marrow transplants for paroxysmal nocturnal haemoglobinuria. Br J Haematol. 1999 Feb;104(2):392–396.Google Scholar
Suenaga, K, Kanda, Y, Niiya, H, Nakai, K, Saito, T, Saito, A, et al. Successful application of nonmyeloablative transplantation for paroxysmal nocturnal hemoglobinuria. Exp Hematol. 2001 May;29(5):639–642.CrossRefGoogle ScholarPubMed
Brodsky, RA, Luznik, L, Bolanos-Meade, J, Leffell, MS, Jones, RJ, Fuchs, EJ. Reduced intensity HLA-haploidentical BMT with post transplantation cyclophosphamide in nonmalignant hematologic diseases. Bone Marrow Transplant. 2008 Oct;42(8):523–527.CrossRefGoogle ScholarPubMed

Save book to Kindle

To save this book to your Kindle, first ensure [email protected] is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×