Paroxysmal nocturnal hemoglobinuria

Common Name(s)

Paroxysmal nocturnal hemoglobinuria

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired disorder that leads to the premature death and impaired production of blood cells. It can occur at any age, but is usually diagnosed in young adulthood. People with PNH have recurring episodes of symptoms due to hemolysis, which may be triggered by stresses on the body such as infections or physical exertion. This results in a deficiency of various types of blood cells and can cause signs and symptoms such as fatigue, weakness, abnormally pale skin (pallor), shortness of breath, and an increased heart rate. People with PNH may also be prone to infections and abnormal blood clotting (thrombosis) or hemorrhage, and are at increased risk of developing leukemia. It is caused by acquired, rather than inherited, mutations in the PIGA gene; the condition is not passed down to children of affected individuals. Sometimes, people who have been treated for aplastic anemia may develop PNH. The treatment of PNH is largely based on symptoms; stem cell transplantation is typically reserved for severe cases of PNH with aplastic anemia or those whose develop leukemia.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Paroxysmal nocturnal hemoglobinuria" for support, advocacy or research.

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Aplastic Anemia & MDS International Foundation

The Aplastic Anemia & MDS International Foundation (AA&MDSIF) is the world's leading nonprofit health organization dedicated to supporting patients and families living with aplastic anemia, myelodysplastic syndromes (MDS), paroxysmal nocturnal hemoglobinuria (PNH), and related bone marrow failure diseases. AA&MDSIF provides answers, support and hope to thousands of patients and their families around the world.

Last Updated: 29 Apr 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Paroxysmal nocturnal hemoglobinuria" for support, advocacy or research.

Logo
Aplastic Anemia & MDS International Foundation

The Aplastic Anemia & MDS International Foundation (AA&MDSIF) is the world's leading nonprofit health organization dedicated to supporting patients and families living with aplastic anemia, myelodysplastic syndromes (MDS), paroxysmal nocturnal hemoglobinuria (PNH), and related bone marrow failure diseases. AA&MDSIF provides answers, support and hope to thousands of patients and their families around the world.

http://www.aamds.org/

Last Updated: 29 Apr 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Paroxysmal nocturnal hemoglobinuria" returned 294 free, full-text research articles on human participants. First 3 results:

Paroxysmal nocturnal hemoglobinuria diagnosed after influenza vaccine: coincidence or consequence?
 

Author(s): Hefziba Green, Noa Eliakim-Raz, Yael Zimra, Anat Gafter-Gvili

Journal: Isr. Med. Assoc. J.. 2014 Feb;16(2):122-4.

 

Last Updated: 20 Mar 2014

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Effects of immunosuppressive therapy in a patient with aplastic anemia-paroxysmal nocturnal hemoglobinuria (AA-PNH) syndrome during ongoing eculizumab treatment.
 

Author(s): Jin Asano, Ryosuke Ueda, Yasuhiro Tanaka, Isaku Shinzato, Toshiro Takafuta

Journal: Intern. Med.. 2014 ;53(2):125-8.

 

A 65-year-old woman experienced a hemolytic attack triggered by sepsis. She presented with markedly increased CD55(-) CD59(-) erythrocytes and the signs of bone marrow failure, which led to a diagnosis of aplastic anemia-paroxysmal nocturnal hemoglobinuria (AA-PNH) syndrome. There ...

Last Updated: 16 Jan 2014

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Polymorphism of the complement receptor 1 gene correlates with the hematologic response to eculizumab in patients with paroxysmal nocturnal hemoglobinuria.
 

Author(s): Tommaso Rondelli, Antonio M Risitano, Régis Peffault de Latour, Michela Sica, Benedetta Peruzzi, Patrizia Ricci, Wilma Barcellini, Anna Paola Iori, Carla Boschetti, Veronica Valle, Veronique Frémeaux-Bacchi, Maria De Angioletti, Gerard Socie, Lucio Luzzatto, Rosario Notaro

Journal: Haematologica. 2014 Feb;99(2):262-6.

 

Complement blockade by eculizumab is clinically effective in hemolytic paroxysmal nocturnal hemoglobinuria. However, the response is variable and some patients remain dependent on red blood cell transfusions. In 72 patients with hemolytic paroxysmal nocturnal hemoglobinuria on eculizumab ...

Last Updated: 5 Feb 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Paroxysmal nocturnal hemoglobinuria" returned 23 free, full-text review articles on human participants. First 3 results:

[Targeting therapy strategy for paroxysmal nocturnal hemoglobinuria].
 

Author(s): Xiang-yan Feng, Mei-li Ge, Yi-zhou Zheng

Journal: Zhonghua Xue Ye Xue Za Zhi. 2011 Sep;32(9):638-41.

 

Last Updated: 16 Feb 2012

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Management of paroxysmal nocturnal hemoglobinuria in the era of complement inhibitory therapy.
 

Author(s): Charles J Parker

Journal: Hematology Am Soc Hematol Educ Program. 2011 ;2011():21-9.

 

Despite the availability of safe, effective targeted therapy that controls intravascular hemolysis, the management of paroxysmal nocturnal hemoglobinuria (PNH) remains complicated because of disease heterogeneity and close association with BM failure syndromes. The purpose of this ...

Last Updated: 14 Dec 2011

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Thrombolytic therapy is effective in paroxysmal nocturnal hemoglobinuria: a series of nine patients and a review of the literature.
 

Author(s): David J Araten, Rosario Notaro, Howard T Thaler, Nancy Kernan, Farid Boulad, Hugo Castro-Malaspina, Trudy Small, Andromachi Scaradavou, Heather Magnan, Susan Prockop, Sara Chaffee, Jason Gonsky, Raymond Thertulien, Roberto Tarquini, Lucio Luzzatto

Journal: Haematologica. 2012 Mar;97(3):344-52.

 

Thrombosis is the major risk factor for death in patients with paroxysmal nocturnal hemoglobinuria. Previous case reports indicate that venous thrombosis in patients with paroxysmal nocturnal hemoglobinuria is amenable to thrombolysis.

Last Updated: 2 Mar 2012

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Paroxysmal Nocturnal Hemoglobinuria (PNH) Registry
 

Status: Recruiting

Condition Summary: Paroxysmal Nocturnal Hemoglobinuria

 

Last Updated: 9 Sep 2014

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Microvascular and Cardiac Dysfunction in Paroxysmal Nocturnal Hemoglobinuria and Sickle Cell Disease
 

Status: Recruiting

Condition Summary: Rheologic Disease; Sickle Cell Disease; Paroxysmal Nocturnal Hemoglobinuria

 

Last Updated: 11 Feb 2011

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Study of Global Coagulation Tests in Patients With Paroxysmal Nocturnal Haemoglobinuria
 

Status: Recruiting

Condition Summary: Paroxysmal Nocturnal Haemoglobinuria

 

Last Updated: 25 May 2010

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