12100 Sickle Cell Disease

Overview

Sickle cell disease is an inherited blood condition that affects red blood cells. Normally, red blood cells are round and flexible. In sickle cell disease, they become hard, sticky, and shaped like a crescent moon. These misshapen cells can get stuck in small blood vessels, causing pain and other serious problems.

Sickle cell disease is one of the most common inherited blood conditions in the world. It is especially common in regions where malaria is or was present, because carrying the sickle cell trait offers some protection against malaria.

It is present from birth and mainly affects people whose ancestors come from parts of Africa, the Caribbean, the Middle East, India, and the Mediterranean. Both parents must carry a specific gene for a child to have sickle cell disease.

Symptoms

Common symptoms

• Painful episodes called 'sickle cell crises' — often in the chest, arms, legs, or back
• Feeling very tired because of anaemia
• Yellowing of the skin and eyes (jaundice)
• Swelling of the hands or feet in babies
• Frequent infections
• Delayed growth in children

Symptoms in children

• Swollen hands and feet
• Crying or irritability from pain
• Need for more frequent naps
• Bedwetting (from kidney problems)
• Slower growth compared with other children

Symptoms in older adults

• Long-term pain
• Increased fatigue
• Sudden vision problems
• Painful joints
• Wounds or ulcers on the lower legs

Causes

Main causes

• It is caused by a change (mutation) in the gene that tells the body how to make haemoglobin, the part of red blood cells that carries oxygen.
• A baby only develops sickle cell disease if they inherit an altered gene from both parents.
• If a person inherits an altered gene from only one parent, they have sickle cell trait — they are usually well but can pass the gene on.

Risk factors

• Having a family history of sickle cell disease or trait
• Being of African, Caribbean, Middle Eastern, Mediterranean, or South Asian descent

When to see a doctor

See a doctor urgently if:

• If you or your child have a fever, severe pain, chest symptoms, or any of the emergency signs above
• If you think you or your child might be having a sickle cell crisis that is not settling at home

Book a routine appointment if:

• If you have unexplained tiredness, repeated infections, or jaundice
• If you are planning a pregnancy and have a family history of sickle cell disease or trait
• For regular check-ups if you know you have sickle cell disease

Diagnosis

Sickle cell disease is usually diagnosed through a blood test. In many countries, it is part of newborn screening, so babies are tested shortly after birth.

Tests that may be done

• Newborn blood spot test (heel prick) in some countries
• Blood test to look for abnormal haemoglobin
• Genetic testing for family members who may be carriers

What to expect at your appointment

Your doctor or specialist will explain the results and what they mean for you or your child. If sickle cell disease is confirmed, you will be offered support and a plan to manage the condition.

Treatment

There is no common cure for sickle cell disease, but treatments can prevent complications, reduce the number of painful crises, and help you live well. Care is usually led by a specialist haematology team (doctors who treat blood conditions).

Self-care at home

• Drink plenty of water to stay hydrated
• Stay warm — cold can trigger a crisis
• Get enough rest and pace your activities
• Take pain relief that your doctor has recommended for mild episodes
• Have an action plan for managing pain at home
• Seek early advice for fever or signs of infection

Medical treatments

Treatments may include medicines to help manage pain, medicines to reduce the frequency and severity of painful episodes, regular antibiotics to prevent certain infections, and, in some cases, regular blood transfusions. A stem cell (bone marrow) transplant can potentially cure the disease in some people, but it is not suitable for everyone and carries significant risks.

When is surgery considered?

Surgery is sometimes used to treat certain complications, such as removing the spleen if it is causing problems, or surgery for hip pain caused by damage to the bone. In some cases, surgery to the eyes may be needed. Your specialist team will discuss the options and risks with you.

Living with this condition

Living with sickle cell disease means paying attention to your body and avoiding triggers that can cause a crisis. Many people learn to manage their condition with support from their care team, family, and friends.

Lifestyle tips

• Stay active but avoid extreme tiredness
• Avoid extreme heat, cold, and sudden changes in temperature
• Do not smoke — smoking can block blood vessels further
• Limit alcohol, which can lead to dehydration
• Travel wisely: high altitude (like mountains or unpressurised aeroplane cabins) can lower oxygen levels

Diet and exercise

Eat a balanced diet with plenty of fruits, vegetables, and whole grains. You may need extra folic acid, a vitamin that helps make red blood cells — your doctor will advise you. Drink enough fluid every day. Gentle exercise, like walking or swimming, is good, but stop if you feel very tired or develop pain.

Mental health and emotional wellbeing

Living with a chronic condition can affect your mood and mental health. It is normal to feel frustrated, sad, or stressed sometimes. Talk to your care team about support, and reach out to friends and family. Mental health is just as important as physical health.

Prevention

Sickle cell disease cannot be prevented because it is inherited. But complications can be prevented or reduced with good medical care, staying hydrated, and avoiding triggers. If you are a carrier (have sickle cell trait), genetic counselling can help you understand the chance of passing it on.

Vaccines

People with sickle cell disease should have all routine vaccinations, plus extra vaccinations to protect against pneumonia and meningitis. Your care team will tell you which vaccines you need.

Screening programmes

Most babies in the UK are screened for sickle cell disease at birth through the newborn blood spot test. If you are planning a pregnancy and there is a risk, you can ask for a blood test and genetic counselling.

Complications

If left untreated

• Sickle cell crises that can damage organs such as the spleen, kidneys, liver, or brain
• Frequent infections that can become severe, such as pneumonia or meningitis
• Anaemia leading to severe tiredness and poor growth
• Stroke, especially in children
• Damage to the eyes, lungs, or joints over time

Long-term outlook

With good modern care, the outlook for sickle cell disease is much better than it was in the past. Many people live into their 50s, 60s, and beyond. Early treatment, regular check-ups, and a healthy lifestyle can reduce complications and improve quality of life. Research continues to bring new and better treatments.

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