Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanParoxysmal nocturnal hemoglobinuria
ORPHA:447Disease
Also called Marchiafava-Micheli disease · PNH
What it is
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.
Key facts
- Prevalence
- 1-9 / 100 000 (Europe)
- Age of onset
- All ages
- Inheritance
- Not applicable
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
17- Chest pain
- Chronic kidney disease
- Conjunctival icterus
- Decreased serum iron
- Deep venous thrombosis
- Dyspnea
- Episodic abdominal pain
- Erythromelalgia
- Headache
- Hemosiderinuria
- Increased blood urea nitrogen
- Increased circulating lactate dehydrogenase concentration
- Reduced haptoglobin level
- Reticulocytosis
- Thromboembolism
- Unconjugated hyperbilirubinemia
- Venous thrombosis
Sometimes5–29%
18- Acute kidney injury
- Arterial thrombosis
- Budd-Chiari syndrome
- Erythroid hyperplasia
- Hypertension
- Impotence
- Jaundice
- Lethargy
and 10 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.