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.

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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.

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

Atypical presentation of paroxysmal nocturnal hemoglobinuria treated by eculizumab: A case report.
 

Author(s): Anne Quinquenel, Quentin Maestraggi, Carinne Lecoq-Lafon, Régis Peffault de Latour, Alain Delmer, Amélie Servettaz

Journal: Medicine (Baltimore). 2017 03;96(12):e6403.

 

Paroxysmal nocturnal hemoglobinuria (PNH) is a nonmalignant acquired hematopoietic stem cell disease, which can be revealed by hemolytic anemia, thromboembolism, or bonemarrow failure. Thrombosis can occur at any site, but coronary thrombosis is extremely rare. Controlled trials have ...

Last Updated: 31 Dec 1969

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Development of a disease-specific quality of life questionnaire for patients with aplastic anemia and/or paroxysmal nocturnal hemoglobinuria (QLQ-AA/PNH)-report on phases I and II.
 

Author(s): Martha Groth, Susanne Singer, Cathrin Niedeggen, Andrea Petermann-Meyer, Alexander Röth, Hubert Schrezenmeier, Britta Höchsmann, Tim H Brümmendorf, Jens Panse

Journal: Ann. Hematol.. 2017 Feb;96(2):171-181.

 

Acquired aplastic anemia (AA) and paroxysmal nocturnal hemoglobinuria (PNH) are interrelated ultra-rare diseases. Quality of life (QoL) evaluation tools used in studies for AA and PNH are unspecific and designed for cancer patients (e.g., the European Organization for Research and ...

Last Updated: 31 Dec 1969

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Small-molecule factor D inhibitors selectively block the alternative pathway of complement in paroxysmal nocturnal hemoglobinuria and atypical hemolytic uremic syndrome.
 

Author(s): Xuan Yuan, Eleni Gavriilaki, Jane A Thanassi, Guangwei Yang, Andrea C Baines, Steven D Podos, Yongqing Huang, Mingjun Huang, Robert A Brodsky

Journal: Haematologica. 2017 Mar;102(3):466-475.

 

Paroxysmal nocturnal hemoglobinuria and atypical hemolytic uremic syndrome are diseases of excess activation of the alternative pathway of complement that are treated with eculizumab, a humanized monoclonal antibody against the terminal complement component C5. Eculizumab must be ...

Last Updated: 31 Dec 1969

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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:

A Hispanic female patient with heartburn: A rare presentation of Paroxysmal Nocturnal Hemoglobinuria.
 

Author(s): Luis A Figueroa-Jiménez, Amy Lee González-Márquez, Ricardo Alicea-Guevara, Mónica Santiago-Casiano, Maryknoll de la Paz-López, Luis Negrón-Garcia, Luis Báez-Diaz, William Cáceres-Pérkins

Journal: Bol Asoc Med P R. ;107(3):9-12.

 

Paroxysmal nocturnal hemoglobinuria (PNH) is a non-malignant, acquired clonal hematopoietic stem cell disease that can present with bone marrow failure, hemolytic anemia, smooth muscle dystonias, and thrombosis. We present a case of a 32 year-old-female, G2P2A0 with no past medical ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 12 Sep 2017

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Coversin in Paroxysmal Nocturnal Haemoglobinuria (PNH)
 

Status: Recruiting

Condition Summary: Paroxysmal Nocturnal Haemoglobinuria (PNH)

 

Last Updated: 23 Jan 2017

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A Treatment Study of ACH-0144471 in Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH)
 

Status: Recruiting

Condition Summary: Paroxysmal Nocturnal Hemoglobinuria (PNH)

 

Last Updated: 6 Jun 2017

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