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 367 free, full-text research articles on human participants. First 3 results:

Assessing complement blockade in patients with paroxysmal nocturnal hemoglobinuria receiving eculizumab.
 

Author(s): Régis Peffault de Latour, Véronique Fremeaux-Bacchi, Raphaël Porcher, Aliénor Xhaard, Jérémie Rosain, Diana Cadena Castaneda, Paula Vieira-Martins, Stéphane Roncelin, Paula Rodriguez-Otero, Aurélie Plessier, Flore Sicre de Fontbrune, Sarah Abbes, Marie Robin, Gérard Socié

Journal: Blood. 2015 Jan;125(5):775-83.

 

Paroxysmal nocturnal hemoglobinuria (PNH) is characterized by intravascular hemolysis, which is effectively controlled with eculizumab, a humanized monoclonal antibody that binds complement protein 5 (C5). The residual functional activity of C5 can be screened using a 50% hemolytic ...

Last Updated: 30 Jan 2015

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Deep sequencing reveals stepwise mutation acquisition in paroxysmal nocturnal hemoglobinuria.
 

Author(s): Wenyi Shen, Michael J Clemente, Naoko Hosono, Kenichi Yoshida, Bartlomiej Przychodzen, Tetsuichi Yoshizato, Yuichi Shiraishi, Satoru Miyano, Seishi Ogawa, Jaroslaw P Maciejewski, Hideki Makishima

Journal: J. Clin. Invest.. 2014 Oct;124(10):4529-38.

 

Paroxysmal nocturnal hemoglobinuria (PNH) is a nonmalignant clonal disease of hematopoietic stem cells that is associated with hemolysis, marrow failure, and thrombophilia. PNH has been considered a monogenic disease that results from somatic mutations in the gene encoding PIGA, which ...

Last Updated: 2 Oct 2014

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The mutational landscape of paroxysmal nocturnal hemoglobinuria revealed: new insights into clonal dominance.
 

Author(s): Stanley Chun-Wei Lee, Omar Abdel-Wahab

Journal: J. Clin. Invest.. 2014 Oct;124(10):4227-30.

 

Paroxysmal nocturnal hemoglobinuria (PNH) is a disorder of hematopoietic stem cells that has largely been considered a monogenic disorder due to acquisition of mutations in the gene encoding PIGA, which is required for glycosylphosphatidylinositol (GPI) anchor biosynthesis. In this ...

Last Updated: 2 Oct 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 35 free, full-text review articles on human participants. First 3 results:

Cerebral venous thrombosis in paroxysmal nocturnal hemoglobinuria: a series of 15 cases and review of the literature.
 

Author(s): Elodie Meppiel, Isabelle Crassard, Régis Peffault de Latour, Sophie de Guibert, Louis Terriou, Hugues Chabriat, Gérard Socié, Marie-Germaine Bousser

Journal: Medicine (Baltimore). 2015 Jan;94(1):e362.

 

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired disorder of hematopoietic stem cells characterized by hemolytic anemia, marrow failure, and a high incidence of life-threatening venous thrombosis. Cerebral venous system is the second most frequent location of thrombosis ...

Last Updated: 9 Jan 2015

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Paroxysmal nocturnal hemoglobinuria.
 

Author(s): Robert A Brodsky

Journal: Blood. 2014 Oct;124(18):2804-11.

 

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare bone marrow failure disorder that manifests with hemolytic anemia, thrombosis, and peripheral blood cytopenias. The absence of two glycosylphosphatidylinositol (GPI)-anchored proteins, CD55 and CD59, leads to uncontrolled complement ...

Last Updated: 31 Oct 2014

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Complement in paroxysmal nocturnal hemoglobinuria: exploiting our current knowledge to improve the treatment landscape.
 

Author(s): Dimitrios C Mastellos, Daniel Ricklin, Despina Yancopoulou, Antonio Risitano, John D Lambris

Journal: Expert Rev Hematol. 2014 Oct;7(5):583-98.

 

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hematological disorder associated with an acquired deficiency in glycophosphatidylinositol-anchor biosynthesis that renders erythrocytes susceptible to complement attack. Intravascular hemolysis via the membrane attack complex is ...

Last Updated: 12 Sep 2014

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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: 1 Apr 2015

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Coversin in Paroxysmal Nocturnal Haemoglobinuria (PNH)
 

Status: Not yet recruiting

Condition Summary: Paroxysmal Nocturnal Haemoglobinuria (PNH)

 

Last Updated: 29 Oct 2015

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Proof of Concept Study to Assess the Efficacy, Safety and Pharmacokinetics of LFG316 in Patients With Paroxysmal Nocturnal Hemoglobinuria
 

Status: Not yet recruiting

Condition Summary: Paroxysmal Nocturnal Hemoglobinuria (PNH)

 

Last Updated: 27 Aug 2015

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