Hereditary spherocytosis
Informed by recognized medical guidance
Overview
Hereditary spherocytosis is an inherited condition that affects red blood cells. Normally, red blood cells are flexible and shaped like a disc with a dimple in the center. In this condition, they are round, stiff, and more fragile. Because they break down faster than normal red blood cells, it can lead to anemia (not enough healthy red blood cells) and other health issues.
Key facts
- It is passed down through families (inherited).
- Red blood cells become round and break down more easily.
- It can cause anemia, jaundice, and gallstones.
- Treatment focuses on managing symptoms and preventing complications.
Hereditary spherocytosis is the most common inherited red blood cell membrane disorder. It affects about 1 in 2,000 to 5,000 people, though many have mild symptoms and may not know they have it.
It can affect anyone, but it is more common in people of Northern European descent. The condition can appear at any age, from newborns to older adults. Symptoms and severity vary widely from person to person.
Symptoms
- Chest pain
- Trouble breathing
- Fainting or severe dizziness
- Sudden confusion
- Very severe weakness that makes it hard to move
- ⚠High fever
- ⚠Severe abdominal pain
- ⚠Dark urine (tea-colored or cola-colored)
- ⚠Worsening jaundice
- ⚠Extreme tiredness that suddenly gets much worse
Common symptoms
- Feeling tired or weak
- Pale skin
- Yellowing of the skin and eyes (jaundice)
- Enlarged spleen (you may feel fullness or pain on the upper left side of the belly)
- Gallstones (may cause pain in the upper right belly)
Symptoms in children
- Jaundice in the first days after birth
- Pale skin and fatigue
- Poor feeding or slower growth
- A larger-than-normal belly (from an enlarged spleen)
Symptoms in older adults
- More noticeable fatigue and weakness
- Gallstones and related belly pain
- Increased risk of leg ulcers
- More frequent or longer-lasting anemia
Causes
Main causes
- A change (mutation) in one of the genes that help form the red blood cell's outer shell (membrane).
- This faulty gene makes the red blood cells round and fragile instead of flexible and disc-shaped.
Risk factors
- Having a parent or close relative with hereditary spherocytosis
- Being of Northern European ancestry
When to see a doctor
See a doctor urgently if:
- You or your child has yellow skin or eyes, or very dark urine.
- You have severe belly pain that is not going away.
- You feel unusually weak, dizzy, or short of breath.
Book a routine appointment if:
- You have ongoing tiredness, pale skin, or other symptoms that concern you.
- You have a family history of hereditary spherocytosis and want to know if you are affected.
Diagnosis
Your doctor will ask about your symptoms, do a physical exam, and order blood tests. If these suggest the condition, you may be referred to a blood specialist (hematologist) for more testing.
Tests that may be done
- Complete blood count (CBC) to check for anemia and red blood cell size and shape
- Blood smear to look at the shape of red blood cells under a microscope
- Reticulocyte count to see if your bone marrow is making more red blood cells
- Bilirubin test to check for jaundice
- Coombs test to rule out other causes of anemia
- Genetic testing (in some cases) to confirm the diagnosis
What to expect at your appointment
Testing is usually simple and involves one or more blood draws. Results may take a few days. Your doctor will explain the findings and what they mean for your care.
Treatment
There is no cure for hereditary spherocytosis, but many people need little or no treatment. For others, treatment helps manage symptoms, prevent complications, and improve quality of life.
Self-care at home
- Stay well hydrated.
- Get enough rest and listen to your body.
- Protect your spleen — avoid contact sports if your spleen is enlarged.
- Keep your vaccinations up to date.
- Follow your doctor's advice about vitamins or supplements, such as folic acid if recommended.
Medical treatments
For moderate or severe anemia, treatment may include blood transfusions. Your doctor may also prescribe medication to reduce symptoms or manage complications. After any treatment, you will need regular follow-up appointments and blood tests.
When is surgery considered?
Surgery to remove the spleen (splenectomy) is sometimes recommended for people with moderate to severe disease, because the spleen destroys fragile red blood cells. Removing the spleen can improve anemia, but it increases the risk of serious infections, so it is not right for everyone. Your doctor will discuss the risks and benefits carefully.
Living with this condition
Most people with hereditary spherocytosis live full, active lives. You may need regular checkups to monitor your blood counts and watch for complications. With mild disease, many people need no daily treatment.
Lifestyle tips
- Wash your hands often and avoid infections when possible.
- Keep your vaccinations current, especially if your spleen has been removed.
- Avoid contact sports or heavy lifting if your spleen is enlarged.
- Tell your doctor or dentist about your condition before any procedure.
Diet and exercise
Eat a balanced diet with plenty of fruits, vegetables, and whole grains. Foods rich in folate (like leafy greens, beans, and fortified grains) are important for making red blood cells. Regular exercise is good for your overall health, but avoid very high-impact sports if your spleen is enlarged.
Mental health and emotional wellbeing
Living with a chronic condition can be stressful or worrying. It is normal to feel anxious, frustrated, or tired of managing appointments. Talking to a counselor or joining a support group can help you cope.
Prevention
No, hereditary spherocytosis cannot be prevented because it is inherited. However, the symptoms and complications can be managed with proper medical care.
Vaccines
Keeping your immunizations up to date is very important, especially if your spleen is enlarged or has been removed. Your doctor may recommend vaccines to protect against infections such as flu, pneumonia, and meningitis.
Screening programmes
If you have a family history of hereditary spherocytosis, genetic counseling and testing can help you understand the chance of passing it on to your children.
Complications
If left untreated
- Gallstones, which can cause pain and blockage in the gallbladder
- Severe anemia that makes you feel very tired and weak
- Aplastic crisis, when the bone marrow suddenly stops making red blood cells for a short time
- Enlarged spleen, which may cause belly pain
- Increased risk of infections if the spleen stops working well
Long-term outlook
With regular medical care, most people with hereditary spherocytosis have a good outlook. Many lead healthy, normal lives. The key is to stay in touch with your doctor and manage symptoms before they become serious.
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Always verify with your doctor
Health guidelines vary by country and region. The information in this article is based on international clinical guidelines but may not reflect the specific guidelines, medications, or practices in your country. Always discuss your health concerns with your own doctor or healthcare provider, and refer to your local national health guidelines where available.
Important notice This information is for educational purposes only. It does not replace professional medical advice, diagnosis, or treatment. Always consult a qualified healthcare provider about your specific situation. If you are experiencing a medical emergency, call your local emergency services immediately.
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Sources and guidance
This article is educational and is prepared with reference to recognized health information and clinical guidance sources where available. Specific source links may vary by topic.
Last updated: July 31, 2026
Educational note: This information is for education only and is not a diagnosis.
Use it to support, not replace, advice from a licensed clinician.
If symptoms are severe, worsening, or urgent, call your local emergency number or seek emergency care.