Sickle cell disease overview

Overview

Sickle cell disease is a lifelong blood disorder that affects the red blood cells. Normally, red blood cells are round and flexible, but in sickle cell disease, they become hard, sticky, and shaped like a crescent moon or sickle. This can slow or block blood flow, causing pain and other health problems.

Sickle cell disease is relatively rare overall but is more common in certain populations. For example, around 1 in every 2,000 babies born in the UK has sickle cell disease. In some parts of Africa, it affects up to 2% of the population.

Sickle cell disease affects people who inherit two copies of the sickle cell gene – one from each parent. People who inherit only one copy are carriers (sickle cell trait) and usually have no symptoms. It occurs in people of all ethnicities but is most common in those with ancestry from sub-Saharan Africa, the Caribbean, the Middle East, India, and the Mediterranean.

Symptoms

Common symptoms

• Painful episodes (called 'crises') that can happen anywhere in the body, often in the bones, chest, or abdomen
• Tiredness and weakness (anaemia)
• Yellowing of the skin and eyes (jaundice)
• Swelling of hands and feet, especially in babies
• Increased risk of infections

Symptoms in children

• Hand-foot syndrome – painful swelling of the hands and feet
• Severe tiredness and paleness (anaemia)
• Delayed growth or puberty
• Frequent infections, especially chest infections and meningitis

Symptoms in older adults

• Chronic pain that is less severe but lasts longer than in younger people
• Progressive damage to organs such as the kidneys, lungs, and heart
• Leg ulcers (sores on the lower legs) that are slow to heal
• Reduced vision or blindness due to eye damage

Causes

Main causes

• Sickle cell disease is caused by a genetic mutation in the haemoglobin gene. Haemoglobin is the protein in red blood cells that carries oxygen. The mutation makes haemoglobin form abnormal clumps, causing red blood cells to become sickle-shaped.
• It is an inherited condition – a child must receive two copies of the abnormal gene (one from each parent) to have the disease. If both parents are carriers (have one copy), there is a 1 in 4 chance their child will have sickle cell disease.

Risk factors

• Having a family history of sickle cell disease or sickle cell trait
• Being of African, Caribbean, Middle Eastern, Indian, or Mediterranean ancestry

When to see a doctor

See a doctor urgently if:

• If you or your child has a fever
• If pain is severe and not helped by usual pain relief
• If you notice new or worsening jaundice
• If there is sudden shortness of breath or chest pain

Book a routine appointment if:

• For regular check-ups with a specialist (haematologist) – usually every 3 to 12 months
• If you are planning a pregnancy or want to know your carrier status
• For advice about vaccinations and preventing infections

Diagnosis

Sickle cell disease can be diagnosed before birth (prenatal testing), at birth (newborn screening), or later in life when symptoms appear. In many countries like the UK, all babies are screened for sickle cell disease shortly after birth as part of the newborn blood spot test.

Tests that may be done

• Blood test (haemoglobin electrophoresis or sickle cell solubility test) – checks the type of haemoglobin in your blood
• Genetic testing – looks for the specific gene mutation
• Prenatal testing – chorionic villus sampling or amniocentesis can detect the condition before birth

What to expect at your appointment

Diagnosis is usually straightforward. After a blood sample is taken, results come back in a few days. If you are diagnosed, the doctor will explain what it means and refer you to a specialist team for ongoing care. There will be lots of support and advice to help you manage the condition.

Treatment

Treatment for sickle cell disease focuses on managing symptoms, preventing complications, and improving quality of life. There is no cure for most people, but a bone marrow transplant (also called stem cell transplant) can be a cure in some cases. Treatment is tailored to each person and may include medicines, lifestyle changes, and regular check-ups.

Self-care at home

• Drink plenty of fluids every day to stay hydrated
• Avoid extreme temperatures – both cold and heat can trigger pain episodes
• Get enough rest and listen to your body
• Avoid smoking and excessive alcohol
• Practice good hand hygiene to prevent infections

Medical treatments

Medical treatments may include pain relief (from over-the-counter painkillers to stronger prescription medicines), antibiotics to prevent infections (often penicillin), and folic acid supplements to help the body make new red blood cells. Some people may need blood transfusions to treat severe anaemia or to prevent strokes. Newer medicines can help reduce the number of pain episodes. Always follow your doctor’s advice about which treatments are right for you.

When is surgery considered?

Some people with sickle cell disease may need surgery for complications such as a damaged spleen, hip problems (avascular necrosis), or gallbladder stones. Any surgery requires careful planning with a specialist team to reduce risks. In some cases, a stem cell transplant (bone marrow transplant) may be considered as a potential cure, but this has serious risks and is not suitable for everyone.

Living with this condition

Living with sickle cell disease means learning to recognise your triggers and manage pain episodes at home. Keep a symptom diary and have a plan with your healthcare team for flare-ups. Stay in touch with your specialist and attend all appointments.

Lifestyle tips

• Stay hydrated and avoid dehydration
• Dress warmly in cold weather and keep cool in hot weather
• Avoid strenuous exercise when you are not feeling well, but regular gentle activity is good
• Have a pain management plan ready – know when to use over-the-counter pain relief and when to seek help

Diet and exercise

A balanced diet rich in fruits, vegetables, whole grains, and lean protein helps keep your immune system strong. There is no special diet for sickle cell disease, but folic acid supplements are often recommended. Gentle exercise like walking, stretching, or swimming can help maintain fitness without triggering pain. Always stop if you feel unwell.

Mental health and emotional wellbeing

Sickle cell disease can be emotionally challenging due to chronic pain, hospital visits, and uncertainty. It is normal to feel worried or sad at times. Talk to your healthcare team about your feelings – they can offer support or refer you to a counsellor. If you are struggling, remember that help is available. In a crisis, contact your local mental health crisis service or call a helpline.

Prevention

Sickle cell disease cannot be prevented because it is a genetic condition inherited from parents. However, genetic counselling can help families understand their risk, and couples who are both carriers may consider options like prenatal testing or pre-implantation genetic diagnosis (PGD).

Vaccines

Vaccinations are very important for people with sickle cell disease because they are at higher risk of serious infections. The NHS recommends routine childhood vaccines, plus extra ones against pneumococcal disease, meningitis, and flu. Make sure you and your child are up to date with all recommended vaccines.

Screening programmes

Newborn screening is done in many countries to detect sickle cell disease early. This allows treatment to start promptly, which can prevent many complications. If you are planning a family, you can ask for carrier screening to find out if you or your partner carry the sickle cell gene.

Complications

If left untreated

• Severe anaemia – this can cause extreme tiredness and organ damage
• Infections – especially pneumonia, meningitis, and blood infections (sepsis)
• Stroke – sickle cells can block blood vessels in the brain
• Acute chest syndrome – a serious lung complication with symptoms like chest pain and difficulty breathing
• Organ damage – over time, the spleen, kidneys, liver, and heart can be affected

Long-term outlook

With modern treatment and good self-care, many people with sickle cell disease live full, active lives into their 50s and beyond. The outlook has improved dramatically in recent decades thanks to better antibiotics, pain management, and regular monitoring. While sickle cell disease is a serious lifelong condition, most people manage well with the right support and medical care. Research continues to find new treatments and potential cures.

Find support

International organisations

• Sickle Cell Society (UK) ↗
• Sickle Cell Disease Association of America ↗
• World Health Organization (WHO) – Sickle Cell Disease ↗

Local organisations

• Your local hospital haematology department · UK
• NHS Sickle Cell and Thalassaemia Centres ↗

Helplines

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