Shots:
- Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired blood disorder where the body’s immune system attacks and destroys red blood cells and platelets
- PharmaShots’ Disease of the Month report aims to educate a broad audience about health conditions that affect communities worldwide.
- This report provides a comprehensive overview of disease, including its characteristics, types, symptoms, diagnostic approaches, available treatment options, epidemiology, market size, ongoing clinical trials, active patient advocacy groups (PAGs), and inspiring patient stories
For a detailed landscape analysis and customized insights on PNH, contact our team at connect@pharmashots.com
Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare and complex disorder that affects red blood cells, white blood cells, and platelets. While it can occur at any age, it is most commonly diagnosed in young adults.
Individuals with PNH experience recurring episodes of paroxysmal symptoms, often triggered by factors such as stress or infection. During these episodes, red blood cells undergo premature destruction, a process known as hemolysis, leading to the release of hemoglobin into the bloodstream. This free hemoglobin passes into the urine, giving it a dark or reddish color, a condition known as hemoglobinuria.
Typically, hemoglobinuria is most noticeable in the early morning, when urine accumulated overnight appears darker due to the breakdown of red blood cells, hence the term “nocturnal” in Paroxysmal Nocturnal Hemoglobinuria. [1]
PNH can be categorized into three different types: [2]
- Classic or Classical PNH: This form of PNH is marked by a large granulocyte clone and intravascular hemolysis, without bone marrow failure. Most red blood cells are type III, showing a complete GPI-anchored protein deficiency
- PNH with a Primary Bone Marrow Disorder: PNH can co-occur with aplastic anemia (AA), myelodysplastic syndrome (MDS), and rarely idiopathic myelofibrosis. It involves intravascular hemolysis and the detection of a PNH cell clone in the blood
- Subclinical PNH: The subclinical form of PNH appears in patients with bone marrow disorders (e.g., AA/sPNH, MDS/sPNH) and shows no hemolysis, but a small PNH clone (usually <1%) is present
Patients with PNH have blood cells that are missing a gene called the PIG-A gene, which allows glycosyl-phosphatidylinositol (GPI) to help certain proteins stick to cells. Without PIG-A, red blood cells lack defense against the complement system and break down prematurely, releasing hemoglobin that may appear in the urine, often at night or early morning. The disease can affect people of any age and may be linked to aplastic anemia, myelodysplastic syndrome, or acute myelogenous leukemia. Apart from prior aplastic anemia, risk factors are unknown. [3]
PNH often causes severe, persistent fatigue that disrupts daily life. Other symptoms include: [4]
- Shortness of Breath (Dyspnea)
- Kidney Problems
- Difficulty Swallowing (Dysphagia)
- Esophageal Spasms
- Stomach Pain
- Back Pain
- Erectile Dysfunction
To diagnose PNH, healthcare providers use several tests, including: [4]
- CBC with Differential: To check for anemia and thrombocytopenia
- Basic Metabolic Panel (BMP): To assess kidney function
- Urinalysis: To detect hemoglobinuria and iron deposits
- Reticulocyte Count: Measures immature red blood cells to evaluate marrow production
- Haptoglobin Test: Low levels indicate red blood cell damage
- Lactate Dehydrogenase (LDH): High levels suggest increased red blood cell destruction
- Liver Function Tests: Measures bilirubin, which rises when red blood cells break down
Treatment for PNH includes: [3]
- Immune-suppressing drugs, blood transfusions, iron and folic acid supplements, and blood thinners to prevent clots. Soliris (eculizumab) and Ultomiris (ravulizumab) block red blood cell breakdown
- A bone marrow transplant can cure PNH and reduce the risk of aplastic anemia
- All patients should get vaccinations to prevent infections. Consult your provider for specifics
In 2022 [2]
- U.S. Estimates:
- Incidence: 5–10 times lower than aplastic anemia (~0.6–6.1 cases per million).
- Prevalence: Estimated at 1–9 per 100,000 people.
- Global Estimates:
- Prevalence: Up to 15.9 per 1 million people.
- Incidence: Around 5–6 new cases per 1 million people annually
Geographic Distribution: PNH and aplastic anemia are more common in Southeast and Eastern Asia
Age: PNH can develop at any age, from as young as 2 years to over 80
Sex: PNH affects men and women equally
The global PNH treatment market was valued at $5.75B in 2024 and is projected to reach $9.96B by 2030, growing at a CAGR of 9.6% from 2025 to 2030 [5]
ULTOMIRIS (ravulizumab-cwvz) IV Injection a terminal complement inhibitor that specifically binds to the C5 with high affinity, thereby inhibiting its cleavage to C5a and C5 indicated for the treatment of adult & paediatric patients with PNH [6]
Other approved therapies:
SOLIRIS (Alexion)
Ultomiris (Alexion)
Empaveli (Apellis)
Fabhalta (Novartis)
Piasky (Genentech)
Voydeya (Alexion)
As of October 13, 2025, active Phase II and III clinical trials are concentrated in the US, followed by Spain, Australia, and Italy [7]
Numerous patient advocacy groups are dedicated to supporting individuals with PNH, aiming to improve patient care, enhance quality of life, raise awareness, and promote research
- Joe [8]
Joe was completing his Master’s degree, engaged to be married, and on his way to becoming a professional mixed martial arts competitor when the symptoms began: unexplained fatigue, dark urine, back and stomach pain. After 6 weeks of numerous blood tests, Joe was referred to a hematologist who diagnosed him with paroxysmal nocturnal hemoglobinuria (PNH), a rare, life-threatening blood disorder in which uncontrolled activation of the complement system leads to the chronic destruction of red blood cells.1 Historically, approximately one-third of patients with PNH did not survive more than 5 years from the time of diagnosis and receiving supportive care.
When Joe was diagnosed, he says that he felt like his dreams were nearly shattered. He was worried that he would not have a future with his fiancée and was told he would never be able to compete in contact sports again. With this news, Joe could have simply thrown in the towel, but he didn’t. Instead, he made it his mission to educate himself and his family about PNH. Fortunately for Joe, his doctors were able to manage his PNH.
I’ve never been one to back down in a fight, but when I was diagnosed with PNH, the prognosis was overwhelming. I had no choice but to view this disease as yet another challenge—one that I had to overcome. If anything, living with PNH has made me appreciate my time even more and given me more drive to get back to doing what I love to do.”
Today, Joe shares his story with other patients with PNH to give them hope for the future. Joe is living his life on his own terms; he married his college sweetheart, welcomed the birth of 2 daughters, and is back in his routine
- Victor [9]
When Victor was in his twenties, he was working in the concert security industry and planning to marry his fiancée when he began having health issues. He started experiencing fatigue, unexplained bruising, abdominal pain, back pain and dark urine. His doctor advised him to go immediately to the hospital, where he was diagnosed with aplastic anemia in 2002
Victor remained hospitalized for one month, including a few days in the intensive care unit. His joints became swollen, and he lost the ability to walk. It took time and persistence, but Victor eventually learned how to walk again. For several years, he received a blood transfusion approximately once a month.
After his symptoms continued, Victor was referred to a hematologist-oncologist who diagnosed him with paroxysmal nocturnal hemoglobinuria (PNH) at the age of 27. PNH is a rare, chronic, progressive, and potentially life-threatening blood disorder.1,2 It is characterized by red blood cell destruction within blood vessels and white blood cell and platelet activation, which can result in blood clots.1,2 At the time, there weren’t any treatments available for PNH, which was difficult news for Victor and his wife, Stephanie, to hear.
“One of the hardest things for her was realizing that the lifespan was 10 years, so we didn’t know if there was a future for us,” Victor said.3 “She wanted to have children, and we didn’t know if that was going to be possible.”
Victor and Stephanie welcomed their first child in 2010; their younger son was born two years later.
Stephanie struggled with her own health issues, and in 2022, she passed away at the age of 46.
Over the years, Victor has continued to work with his doctor and care team to manage his disease. He also joined a support group at his wife’s suggestion, which radically changed his outlook.
“When I went to the first meeting and shared my story, I realized it’s important to know you are not alone and that there is hope,” Victor says. “It gave me a sense of comfort and encouragement. Now I know that others can benefit from my experience, and I want to be an inspiration to them.
Today, in addition to raising his two children, he hopes to honor his wife’s legacy by helping other people living with PNH.
“My advice to a new patient would be: take it one step at a time. You get up, and you fall. But you keep going. And you keep trying, and you just move forward. Embrace the journey; make it your own
Advances in haematological care are paving the way for managing common conditions like PNH and helping patients like Joe and Victor the symptoms with confidence
References
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