Living with hereditary spherocytosis

Overview

Hereditary spherocytosis is a condition you are born with that affects red blood cells. Normally, red blood cells are flexible discs that travel easily through small blood vessels. In this condition, they are shaped like spheres, which makes them more fragile and likely to break down too early.

It is fairly uncommon. It is estimated to affect about 1 in 2,000 to 1 in 5,000 people. It is one of the most common inherited red blood cell disorders, especially in people of Northern European descent.

It affects both males and females equally. It can be diagnosed at any age, though many people find out during childhood or the teen years. Others only discover it later in life, often after a routine blood test or when a complication occurs.

Symptoms

Common symptoms

• Tiredness and low energy (fatigue) due to anemia
• Pale skin or pale complexion
• Yellow tint to the skin or the whites of the eyes (jaundice)
• Enlarged spleen, which can feel like fullness or discomfort in the upper left belly
• Dark urine from rapid breakdown of red blood cells
• Gallstones, which may cause belly pain

Symptoms in children

• Jaundice in the first days of life (newborn jaundice)
• Poor appetite or slow weight gain
• Being unusually pale or tired
• A swollen belly from an enlarged spleen or liver

Symptoms in older adults

• Milder symptoms that may become more noticeable with age
• Shortness of breath during Light activity
• Increased tiredness
• Higher chance of gallstones and complications from anemia

Causes

Main causes

• A change (mutation) in one of the genes that helps build the red blood cell's outer membrane (the cell wall). This makes the cell round and fragile instead of flexible and disc-shaped.
• The condition is usually inherited from one parent, but sometimes the gene change happens for the first time in a person.

Risk factors

• Having a parent or sibling with hereditary spherocytosis
• A family history of unexplained anemia, jaundice, or gallbladder surgery at a young age

When to see a doctor

See a doctor urgently if:

• You or your child have symptoms of severe anemia, such as fainting, fast heartbeats, or trouble breathing
• You have a sudden worsening of jaundice or dark urine
• You have a fever or signs of infection, which could trigger a major drop in red blood cells

Book a routine appointment if:

• You have long-term tiredness, pale skin, or repeated episodes of jaundice
• You or your child have been told you have an enlarged spleen or gallstones without an obvious cause
• You want to understand how a family history of anemia might affect you

Diagnosis

Doctors usually diagnose hereditary spherocytosis with simple blood tests. They may also ask about family history and check for an enlarged spleen or jaundice. The diagnosis is often clear from these results. Sometimes genetic testing is used to confirm the diagnosis or provide information for family planning.

Tests that may be done

• A complete blood count (CBC) to check the number, size, and shape of red blood cells
• A blood smear, where a drop of blood is looked at under a microscope to see sphere-shaped red blood cells
• A reticulocyte count, which shows how quickly your body is making new red blood cells
• An osmotic fragility test, which checks how easily red blood cells break apart in a weak salt solution
• Genetic testing, sometimes used to find the exact gene change

What to expect at your appointment

Your doctor may run several blood tests and refer you to a haematologist, a doctor who specialises in blood disorders. The testing process is straightforward and only involves a needle prick to take a small blood sample. It usually causes little or no pain.

Treatment

Treatment depends on how severe your symptoms are. Many people with mild disease do not need any specific treatment. For others, treatment focuses on managing symptoms, preventing complications, and helping the body make enough healthy red blood cells.

Self-care at home

• Keep well rested and pace your activities to avoid severe tiredness.
• Drink plenty of fluids to stay well hydrated.
• Wash your hands often and avoid close contact with people who are sick.
• Treat fevers promptly and see a doctor if you think you have an infection.
• Ask your doctor which vaccinations you should have, especially flu and COVID-19, as infections can make anemia worse.

Medical treatments

If you have significant anemia, your doctor may recommend a daily B vitamin supplement to help your body produce more red blood cells. Some people with severe anemia may need blood transfusions from time to time. Medicines can help with gallstones or infections, but they do not fix the shape of the red blood cells. Your doctor will personalise treatment to your needs.

When is surgery considered?

In severe cases, when anemia is hard to control or complications like painful gallstones keep happening, a surgeon might recommend removing the spleen. This operation is called a splenectomy. It helps red blood cells last longer, but it raises the risk of serious infections. Surgery is only considered when the benefits clearly outweigh the risks, and usually not before age 5.

Living with this condition

Living with hereditary spherocytosis means being aware of your energy levels and watching for signs of a sudden drop in red blood cells, called a crisis. You can learn to recognise when you need rest and when to ask for medical help. Most people manage well with simple habits like staying hydrated, eating well, and keeping regular check-ups with their doctor.

Lifestyle tips

• Stay active, but stop if you feel too tired or short of breath.
• Avoid extreme cold, which can make red blood cells break down faster in some people.
• Avoid very high altitudes or scuba diving, as lower oxygen levels can stress your red blood cells.
• Keep a simple record of your symptoms to share with your healthcare team.

Diet and exercise

Eating a balanced diet with fruits, vegetables, whole grains, and lean protein helps support your energy. Foods rich in iron, like leafy greens, beans, and lean meat, can be helpful if you are anaemic, but do not take iron supplements unless your doctor advises it. Regular, moderate exercise is generally encouraged, but ask your doctor what level of activity is safe for you. You may also be advised to take a daily B vitamin supplement to help your body make new red blood cells.

Mental health and emotional wellbeing

Living with a long-term condition can sometimes feel stressful or overwhelming. It is normal to feel anxious, frustrated, or worried, especially if you have symptoms like tiredness or need frequent medical visits. Talking to family, friends, or a counsellor can help. Remember, you are not alone, and many people lead active, fulfilling lives with this condition.

Prevention

Hereditary spherocytosis is genetic, so it cannot be prevented. If you have the condition and are planning to have children, you might consider speaking with a genetic counsellor. They can explain the chances of passing the gene on and review testing options. Many people with this condition have healthy families and normal lives.

Vaccines

Vaccinations are important for staying healthy. If your spleen has been removed, your risk of certain infections is higher, so it is especially important to keep up with vaccines against pneumococcus, meningitis, and haemophilus influenzae type B. Your doctor will tell you which vaccines you need and when.

Screening programmes

Newborn screening is not standard everywhere, but if you have a family history, your doctor may offer a blood test for your baby shortly after birth. Once you have a diagnosis, regular blood tests may be used to monitor your health.

Complications

If left untreated

• Severe anemia that causes fatigue, pale skin, and poor growth in children
• Gallstones, which can cause pain or infection and may require surgery
• Aplastic crisis, where a viral infection temporarily stops the bone marrow from producing red blood cells, causing a sudden and dangerous drop in blood count
• An enlarged spleen, which can rupture in rare cases

Long-term outlook

With proper care and monitoring, most people with hereditary spherocytosis live a normal lifespan and lead healthy, active lives. Even those who need treatment, such as blood transfusions or surgery, often feel significantly better afterwards. The key is to stay connected with your healthcare team and seek help early if you notice new or worsening symptoms.

Find support

International organisations

• National Organization for Rare Disorders (NORD) ↗
• Genetic and Rare Diseases Information Center (GARD) ↗

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