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

Predictive Factors of Mortality in Population of Patients with Paroxysmal Nocturnal Hemoglobinuria (PNH): Results from a Korean PNH Registry.
 

Author(s): Jun Ho Jang, Jin Seok Kim, Sung-Soo Yoon, Je-Hwan Lee, Yeo-Kyeoung Kim, Deog-Yeon Jo, Jooseop Chung, Sang Kyun Sohn, Jong Wook Lee

Journal: J. Korean Med. Sci.. 2016 Feb;31(2):214-21.

 

Paroxysmal nocturnal hemoglobinuria (PNH) is a progressive, systemic, life-threatening disease, characterized by chronic uncontrolled complement activation. A retrospective analysis of 301 Korean PNH patients who had not received eculizumab was performed to systematically identify ...

Last Updated: 3 Feb 2016

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Eculizumab Dosing Intervals Longer than 17 Days May Be Associated with Greater Risk of Breakthrough Hemolysis in Patients with Paroxysmal Nocturnal Hemoglobinuria.
 

Author(s): Hirokazu Nakayama, Kensuke Usuki, Hirotoshi Echizen, Ryuichi Ogawa, Takao Orii

Journal: Biol. Pharm. Bull.. 2016 ;39(2):285-8.

 

Eculizumab given bi-weekly is widely recommended for the treatment of paroxysmal nocturnal hemoglobinuria (PNH). We undertook a retrospective analysis on the medical records of 763 dosings of 14 PNH patients to investigate whether a threshold would exist in dosing intervals associated ...

Last Updated: 2 Feb 2016

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Evaluation of paroxysmal nocturnal hemoglobinuria screening by flow cytometry through multicentric interlaboratory comparison in four countries.
 

Author(s): Agathe Debliquis, Orianne Wagner-Ballon, Magali Le Garff-Tavernier, Chantal Fossat, Bernard Chatelain, Rémi Letestu, Bernard Drénou,

Journal: Am. J. Clin. Pathol.. 2015 Dec;144(6):858-68.

 

Paroxysmal nocturnal hemoglobinuria (PNH) is currently diagnosed by flow cytometry; although highly sensitive, its interpretation and reporting appear as critical as its technique. Thus, we developed a quality control scheme for the French-speaking region based on the international ...

Last Updated: 17 Nov 2015

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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:

Paroxysmal nocturnal hemoglobinuria: a complement-mediated hemolytic anemia.
 

Author(s): Amy E DeZern, Robert A Brodsky

Journal: Hematol. Oncol. Clin. North Am.. 2015 Jun;29(3):479-94.

 

Paroxysmal nocturnal hemoglobinuria is manifests with a chronic hemolytic anemia from uncontrolled complement activation, a propensity for thrombosis and marrow failure. The hemolysis is largely mediated by the alternative pathway of complement. Clinical manifestations result from ...

Last Updated: 5 Jun 2015

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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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Symptoms, Diagnosis, and Treatment

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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: Recruiting

Condition Summary: Paroxysmal Nocturnal Haemoglobinuria (PNH)

 

Last Updated: 4 May 2016

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ALXN1210 Versus Eculizumab in Complement Inhibitor Treatment-Naïve Adult Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH)
 

Status: Recruiting

Condition Summary: Paroxysmal Nocturnal Hemoglobinuria (PNH)

 

Last Updated: 27 Oct 2016

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