Table of ContentsView AllTable of ContentsFrequent SymptomsRare SymptomsCausesRisk FactorsComplicationsWhen to See a DoctorFrequently Asked QuestionsNext in Paroxysmal Nocturnal Hemoglobinuria GuideHow Paroxysmal Nocturnal Hemoglobinuria Is Diagnosed
Table of ContentsView All
View All
Table of Contents
Frequent Symptoms
Rare Symptoms
Causes
Risk Factors
Complications
When to See a Doctor
Frequently Asked Questions
Next in Paroxysmal Nocturnal Hemoglobinuria Guide
Paroxysmal nocturnal hemoglobinuria(PNH) is a rare disease that develops when your blood cells are formed. It can lead to the abnormal destruction of blood cells, resulting in various symptoms.
People with PNH can have either a few symptoms that come and go or severe symptoms that can have fatal complications.
This article will provide an overview of the symptoms you can expect with PNH and why the condition develops.
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What Is PNH?
Paroxysmal nocturnal hemoglobinuria (PNH) occurs when there is a problem with your stem cells, which are created in yourbone marrow. The rare disorder causes your blood cells to develop incorrectly and malfunction. This dysfunction can lead to complications, including:
These problems can affect the entire body, so the symptoms of PNH can vary.
Your blood cells do a lot of important work in your body, like carrying oxygen to your tissues, clotting blood, and fighting infections. PNH symptoms are the noticeable effects that occur when these blood cells are not working properly.
Some of the most common symptoms that people with PNH will experience include:
HemoglobinuriaHemoglobinuria is when hemoglobin is abnormally present in your urine. About 50% of people with PNH develop hemoglobinuria as a symptom of the condition.
Hemoglobinuria
Hemoglobinuria is when hemoglobin is abnormally present in your urine. About 50% of people with PNH develop hemoglobinuria as a symptom of the condition.
What Is Anemia?
Most people with PNH experience mild symptoms that may continue for years, with periods of flare-ups (worsening of symptoms) and remission (relief of symptoms). In some cases, more severe symptoms can develop suddenly and cause life-threatening complications.
Rare or advanced symptoms of PNH include:
What Does Blood Dycrasias Mean?
Common Causes
Who Gets PNH?One or 2 people per million will develop PNH. The condition affects men and women equally, and it usually develops between the ages of 35 and 40.Some people may experience mild symptoms of PNH for decades. The mortality rates with PNH are typically 35% at 5 years and 50% at 10 years.
Who Gets PNH?
One or 2 people per million will develop PNH. The condition affects men and women equally, and it usually develops between the ages of 35 and 40.Some people may experience mild symptoms of PNH for decades. The mortality rates with PNH are typically 35% at 5 years and 50% at 10 years.
One or 2 people per million will develop PNH. The condition affects men and women equally, and it usually develops between the ages of 35 and 40.
Some people may experience mild symptoms of PNH for decades. The mortality rates with PNH are typically 35% at 5 years and 50% at 10 years.
The gene mutation that causes PNH occurs in several steps. First, a mutation develops in the phosphatidylinositol glycan class A (PIGA) gene, which helps create proteins that protect blood cells from early destruction.
The mutation develops as blood cells are formed in bone marrow, but its effects do not become obvious until the cells begin to malfunction later.
How Hematopoiesis Works
It’s not known what triggers the cells to stop working properly, but attacks on the immune system, illness, and stress, have all been linked to the appearance of PNH symptoms.
Roughly one-third of people with the condition were previously diagnosed with aplastic anemia—a condition in which the body does not produce enough new blood cells. However, it’s not clear if the association is linked to aplastic anemia or to a combination ofaplastic anemiaand its treatment with medications that suppress the immune system.
The Difference Between Hereditary and Acquired Mutations
There are no known risk factors for PNH other than having aplastic anemia.The risk factors for aplastic anemia have not been directly linked to PNH, but they include:
What Is Drug-Induced Hemolytic Anemia?
In most cases, the complications of PNH are related to its symptoms. Anemias and other forms of low blood counts can lead to serious health consequences. For example, hemolytic anemias and blood clots can be fatal.
There are also other conditions that are associated with PNN that can increase your risk of complications, including:
When to Seek Medical Attention
Thetreatment for PNHdepends on the severity of your symptoms. In the beginning, you may only feel occasional weakness and fatigue that you may think are due to other causes. However, as PNH becomes more severe, you will begin to notice signs and symptoms that will likely prompt you to seek medical care.
Schedule an appointment with your doctor if you have weakness or fatigue that does not go away with rest or that persists for a long time. You should also call your doctor for symptoms like:
Some symptoms of PNH come on suddenly instead of gradually building over time. These can be a sign of severe PNH or complications like blood clots. You should call 911 or seeemergency careif you experience symptoms such as:
How to Recognize a Medical Emergency
Summary
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare condition that develops when there is a problem with how your blood cells are formed. The condition can lead to low blood counts, fatigue and weakness, blood clots, and other serious complications.
The disorder is not inherited, and there is not much that you can do to prevent PNH. If you have signs or symptoms of PNH, it’s important to tell your doctor. While PNH can be fatal within a decade if left untreated, many people do well if they get the right treatment.
How Paroxysmal Nocturnal Hemoglobinuria Is Diagnosed
A Word From Verywell
Paroxysmal nocturnal hemoglobinuria (PNH) can have different symptoms, some of which can be mistaken for other conditions. Common symptoms include weakness, fatigue, and bruising or bleeding.
No. PNH is an acquired genetic mutation, not an inherited one. There are other forms of anemia that can be inherited, but PHN is not one of them.Learn MoreInherited Anemias
No. PNH is an acquired genetic mutation, not an inherited one. There are other forms of anemia that can be inherited, but PHN is not one of them.
Learn MoreInherited Anemias
If hemoglobin is in the urine, it can make it appear reddish in color—but it does not mean that the urine is bloody. Also, not everyone with PNH has discolored urine as a symptom. Weakness and fatigue are more common.
Why Is My Pee a Weird Color?
6 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Cançado RD, da Silva A, Araújo, Freire Sandes A, et al.Consensus statement for diagnosis and treatment of paroxysmal nocturnal haemoglobinuria.Hematol. Transfus. Cell Ther.September 2021;43(3):341-348. doi:10.1016/j.htct.2020.06.006Johns Hopkins Medicine.Paroxysmal nocturnal hemoglobinuria (PNH).National Organization for Rare Disorders.Paroxysmal nocturnal hemoglobinuria. Updated 2019.National Institutes of Health.Paroxysmal nocturnal hemoglobinuria. Updated April 7, 2021.The Aplastic Anemia and MDS Association.PNH: Paroxysmal nocturnal hemoglobinuria.Johns Hopkins Medicine.Aplastic anemia.
6 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Cançado RD, da Silva A, Araújo, Freire Sandes A, et al.Consensus statement for diagnosis and treatment of paroxysmal nocturnal haemoglobinuria.Hematol. Transfus. Cell Ther.September 2021;43(3):341-348. doi:10.1016/j.htct.2020.06.006Johns Hopkins Medicine.Paroxysmal nocturnal hemoglobinuria (PNH).National Organization for Rare Disorders.Paroxysmal nocturnal hemoglobinuria. Updated 2019.National Institutes of Health.Paroxysmal nocturnal hemoglobinuria. Updated April 7, 2021.The Aplastic Anemia and MDS Association.PNH: Paroxysmal nocturnal hemoglobinuria.Johns Hopkins Medicine.Aplastic anemia.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Cançado RD, da Silva A, Araújo, Freire Sandes A, et al.Consensus statement for diagnosis and treatment of paroxysmal nocturnal haemoglobinuria.Hematol. Transfus. Cell Ther.September 2021;43(3):341-348. doi:10.1016/j.htct.2020.06.006Johns Hopkins Medicine.Paroxysmal nocturnal hemoglobinuria (PNH).National Organization for Rare Disorders.Paroxysmal nocturnal hemoglobinuria. Updated 2019.National Institutes of Health.Paroxysmal nocturnal hemoglobinuria. Updated April 7, 2021.The Aplastic Anemia and MDS Association.PNH: Paroxysmal nocturnal hemoglobinuria.Johns Hopkins Medicine.Aplastic anemia.
Cançado RD, da Silva A, Araújo, Freire Sandes A, et al.Consensus statement for diagnosis and treatment of paroxysmal nocturnal haemoglobinuria.Hematol. Transfus. Cell Ther.September 2021;43(3):341-348. doi:10.1016/j.htct.2020.06.006
Johns Hopkins Medicine.Paroxysmal nocturnal hemoglobinuria (PNH).
National Organization for Rare Disorders.Paroxysmal nocturnal hemoglobinuria. Updated 2019.
National Institutes of Health.Paroxysmal nocturnal hemoglobinuria. Updated April 7, 2021.
The Aplastic Anemia and MDS Association.PNH: Paroxysmal nocturnal hemoglobinuria.
Johns Hopkins Medicine.Aplastic anemia.
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