Sickle cell disease

Sickle cell disease

Symptoms

Sickle cell disease

Medical help

Sickle cell disease

Diagnosis

Sickle cell disease

Medical treatments

Sickle cell disease

Self-care

Sickle cell disease

Prognosis or recovery

Sickle cell disease

Causes

The main symptoms of sickle cell disease are pain, swelling in the hands and feet and tiredness.

You should get medical help if you or your child have symptoms of sickle cell disease. Some symptoms may need urgent medical help.

Sickle cell disease is diagnosed through a blood test done during pregnancy and after birth.

Treatments for sickle cell disease include painkillers, antibiotics and blood transfusions.

Sickle cell disease can sometimes be helped by drinking plenty of fluids, resting or avoiding hot or cold temperatures.

Sickle cell disease affects everyone differently. When you're not having a sickle cell crisis, you may feel generally well.

Sickle cell disease is passed on by both parents. You're more likely to have it if you from an African, Caribbean or South Asian background.

Symptoms of sickle cell disease

Sickle cell disease is usually found during pregnancy or shortly after birth as part of the NHS pregnancy and newborn screening programmes.

Symptoms can start from 6 months old.

The main symptoms include:

• pain in your bones, joints, muscles or chest
• feeling weak and tired
• swelling in the hands and feet
• breathing problems
• getting infections more often
• stomach pain

There are other symptoms that can sometimes happen, such as blurred vision, a high temperature or an erection that does not go away or is painful (priapism).

Symptoms affect everyone differently but for most people, they come and go and do not happen all the time.

A sickle cell crisis

Sometimes, there are times when you get sudden, severe pain or other symptoms such as blurred vision, a high temperature or an erection that does not go away or is painful (priapism). This is called a sickle cell crisis and can last hours, days or weeks.

A crisis can be triggered by different things, including not drinking enough fluid (dehydration), a sudden change in temperature and stress.

When and where to get medical help

Some symptoms of sickle cell disease may need medical help.

See a GP if:

• you or your child need help with sickle cell disease symptoms

Call 999 if:

• you think you're having a sickle cell crisis and have severe pain, breathing difficulties or are being sick
• you have sickle cell disease and you have a high temperature
• you have an erection that is painful or does not go away (priapism)

Information

Do not drive yourself to A&E.

The person you speak to at 999 will give you advice about what to do.

How sickle cell disease is diagnosed

Sickle cell disease is usually found during pregnancy or shortly after birth as part of the NHS pregnancy and newborn screening programmes.

Sickle cell screening during pregnancy

If you're pregnant, you'll usually be offered screening for sickle cell disease by your midwife before 10 weeks. It's a blood test appointment that a midwife can book for you, or you can book for yourself.

This test checks to see if you carry sickle cell disease genes that can be passed on to your baby.

You do not have to have the test but if you decide not to have it and change your mind later, speak to your midwife or GP.

Screening for sickle cell disease in babies

Sickle cell disease is one of the conditions that most babies are checked for as part of the newborn blood spot (heel prick) test.

This test helps to:

• confirm your baby has sickle cell disease or show if your baby is a carrier of the condition
• check for any other inherited conditions, such as cystic fibrosis

Carrier testing

You can get a blood test to find out if you are a sickle cell carrier, and are at risk of having a child with sickle cell disease, at any time.

Talk to a GP about getting the test.

Treatments for sickle cell disease

If you have sickle cell disease, you'll usually be treated by your doctor and a specialist healthcare team.

Treatments are used to help control symptoms or prevent other problems developing.

Treatments include:

• painkillers such as paracetamol or ibuprofen – if your pain is very severe, you may be given a stronger painkiller (opioid)
• antibiotics such as penicillin or erythromycin, to help prevent serious infections, particularly in children
• pneumonia, meningitis and other vaccinations to help prevent serious illness
• a medicine called hydroxycarbamide (hydroxyurea) – this can help to reduce a pain crisis
• blood transfusions – this helps to increase healthy blood cells
• Red cell exchange – replacing damaged blood cells with healthy blood cells from a donor

Stem cell and bone marrow transplants and gene therapy are sometimes used to cure sickle cell disease. They work by using healthy blood cells from a donor or treating your own blood cells so they work properly.

Having one of these procedures will depend on the type of sickle cell disease you have, whether the benefits outweigh the risks, if it’s suitable for you or if you have a suitable donor.

Things you can do to help sickle cell disease

If you have sickle cell disease, there are things you can do to help prevent or reduce the painful symptoms of a sickle cell crisis.

Do

• drink plenty of fluids to avoid dehydration

• try to avoid sudden temperature changes, for example, dress warmly in cold weather and avoid getting into very cold water

• make sure you are up-to-date with vaccinations

• try gentle to moderate exercise, such as walking or yoga – avoid high intensity exercise because it may affect your breathing

• try doing breathing exercises to relax

Don't

• do not drink alcohol or smoke – this can increase the risk of getting a lung condition called acute chest syndrome

How sickle cell disease affects your life

Sickle cell disease is different for everyone. You may not have the same level of pain or as many sickle cell crises as someone else.

When you are not having a sickle cell crisis, you may feel generally well and it may not affect your daily life too much.

You will have a healthcare plan and regular check-ups to make sure there are no problems.

It's important for you to follow your care plan and go to check-ups. This is because sickle cell disease increases the risk of complications such as stroke, eye problems and damage to organs such as the lungs, heart and kidneys.

Causes of sickle cell disease

Sickle cell disease is an inherited condition. If both your parents have the sickle cell gene you will either have the condition, or carry the sickle cell trait.

If you're a sickle cell trait carrier, it means you do not have the disease and you cannot develop it, but you could pass it on if you have children.

You are more likely to inherit sickle cell disease if your background is:

• African
• Caribbean
• Mediterranean
• Asian (south and southeast)
• Middle Eastern

You can find out if you are a sickle cell trait carrier. Ask your GP about having a blood test to check for it.

Help and support for sickle cell disease

Sickle cell disease can be a difficult condition to live with, both physically and emotionally.

As well as support from your doctor, you may find it helpful to get support from charities, organisations and other people with the condition.

Sickle Cell Society

Information and support for anyone affected by sickle cell disease.

• Website: www.sicklecellsociety.org
• Support groups and local services for caregivers (Sickle Cell Society)

Contact

Help and support for parent carers of children with a disability.

• Website: www.contact.org.uk
• Sickle cell disorders (Contact)

Sickle cell & young stroke survivors (SCYSS)

• Website: www.scyss.org
• Get support (Sickle Cell & Young Stroke Survivors)