Learn About Paroxysmal Nocturnal Hemoglobinuria

What is the definition of Paroxysmal Nocturnal Hemoglobinuria?

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired (not inherited) disorder that leads to the premature death and impaired production of blood cells. The disorder affects red blood cells (erythrocytes), which carry oxygen; white blood cells (leukocytes), which protect the body from infections; and platelets (thrombocytes), which are involved in blood clotting. PNH can occur at any age, although it is most often diagnosed in young adulthood.

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What are the causes of Paroxysmal Nocturnal Hemoglobinuria?

Variants (also known as mutations) in the PIGA gene cause almost all cases of PNH. Variants in the PIGT gene cause the rare, inflammatory form of the condition. The proteins produced from both genes are involved in a multistep process that connects particular proteins to the surface of cells. These proteins are attached to the cell by a specialized molecule called GPI anchor and are known as GPI-anchored proteins. The PIG-A protein helps produce the GPI anchor, and the PIG-T protein helps attach the GPI anchor to proteins. Anchored proteins have a variety of roles, including sticking cells to one another, relaying signals into cells, and protecting cells from destruction.

How prevalent is Paroxysmal Nocturnal Hemoglobinuria?

PNH is a rare disorder, estimated to affect between 1 and 5 per million people. The inflammatory form of the disorder is extremely rare and has been identified in a very small number of individuals.

Is Paroxysmal Nocturnal Hemoglobinuria an inherited disorder?

PNH is acquired, rather than inherited. Most cases result from new variants in the PIGA gene, and generally occur in people with no previous history of the disorder in their family. This form of the condition is not passed down to children of affected individuals.

Who are the top Paroxysmal Nocturnal Hemoglobinuria Local Doctors?
Elite
Highly rated in
26
conditions
Hematology
Oncology

Johns Hopkins Health System

Johns Hopkins University

600 N Wolfe St, 
Baltimore, MD 

Robert Brodsky is a Hematologist and an Oncologist in Baltimore, Maryland. Brodsky has been practicing medicine for over 33 years and is rated as an Elite expert by MediFind in the treatment of Paroxysmal Nocturnal Hemoglobinuria. He is also highly rated in 26 other conditions, according to our data. His top areas of expertise are Paroxysmal Nocturnal Hemoglobinuria PNH, Paroxysmal Cold Hemoglobinuria, Paroxysmal Nocturnal Hemoglobinuria, and Hemolysis. He is licensed to treat patients in Maryland. Brodsky is currently accepting new patients.

Elite
Highly rated in
19
conditions

King's College Hospital

London, ENG, GB 

Austin Kulasekararaj practices in London, United Kingdom. Kulasekararaj is rated as an Elite expert by MediFind in the treatment of Paroxysmal Nocturnal Hemoglobinuria. He is also highly rated in 19 other conditions, according to our data. His top areas of expertise are Paroxysmal Nocturnal Hemoglobinuria, Paroxysmal Cold Hemoglobinuria, Paroxysmal Nocturnal Hemoglobinuria PNH, and Hemolysis.

 
 
 
 
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Elite
Highly rated in
15
conditions

University Of Naples Federico II

Avellino, IT 

Antonio Risitano practices in Avellino, Italy. Risitano is rated as an Elite expert by MediFind in the treatment of Paroxysmal Nocturnal Hemoglobinuria. He is also highly rated in 15 other conditions, according to our data. His top areas of expertise are Paroxysmal Cold Hemoglobinuria, Paroxysmal Nocturnal Hemoglobinuria, Paroxysmal Nocturnal Hemoglobinuria PNH, and Hemolysis.

What are the latest Paroxysmal Nocturnal Hemoglobinuria Clinical Trials?
A Phase 3, Randomized, Open-Label, Active-Controlled Study of ALXN1210 Versus Eculizumab in Adult Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Currently Treated With Eculizumab
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An Open Label, Multicenter Roll-over Extension Program (REP) to Characterize the Long-term Safety and Tolerability of Iptacopan (LNP023) in Patients With Paroxysmal Nocturnal Hemoglobinuria (PNH) Who Have Completed PNH Phase 2 and Phase3 Studies With Iptacopan
Who are the sources who wrote this article ?

Published Date: February 24, 2022Published By: National Institutes of Health

What are the Latest Advances for Paroxysmal Nocturnal Hemoglobinuria?
Long-term safety and efficacy of ravulizumab in patients with paroxysmal nocturnal hemoglobinuria: 2-year results from two pivotal phase 3 studies.
Hemolytic paroxysmal nocturnal hemoglobinuria: 20 years of medical progress.
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Pegcetacoplan for paroxysmal nocturnal hemoglobinuria.