Sickle cell disease is the name for a group of inherited health conditions that affect the red blood cells. The most serious type is called sickle cell anaemia.
Sickle cell disease is particularly common in people with an African or Caribbean family background.
People with sickle cell disease produce abnormal haemoglobin. This causes unusually shaped red blood cells. They can cause problems because they do not live as long as healthy blood cells and can block blood vessels.
Sickle cell disease is a serious and lifelong health condition. Early detection and treatment are important for managing symptoms and reducing serious long-term complications.
Illness caused by sickle cell disease
People born with sickle cell disease tend to have problems from early childhood. But some children have few symptoms and lead normal lives most of the time.
The main features of illness for people with sickle cell disease are:
- painful episodes called sickle cell crises, which can be very severe and last for days or weeks
- an increased risk of serious infections
- anaemia (where red blood cells cannot carry enough oxygen around the body) - this can cause tiredness and shortness of breath
Some people also experience other problems, such as delayed growth, strokes and lung problems.
Causes of sickle cell disease
Sickle cell disease is caused by having 2 copies of a gene for abnormal haemoglobin. This affects how red blood cells work.
Carriers of sickle cell disease (sickle cell trait)
A carrier of sickle cell is someone who carries 1 copy of the gene that causes sickle cell disease and 1 copy of the gene for normal haemoglobin.
People with the sickle cell trait will not develop sickle cell disease, but are at risk of having a child with it if their partner is also a carrier.
If both parents of a child with sickle cell disease have 1 copy of the sickle cell gene, they are carriers.
There is a 1 in 4 chance of each child they have having sickle cell disease.
There is a 1 in 2 chance that each child they have will have 1 copy of the abnormal gene and be a carrier like their parents.
Testing for sickle cell disease
Sickle cell disease is often detected during pregnancy or soon after birth.
Sickle cell is not included in the newborn blood spot screening programme in Ireland.
Blood tests can also be carried out by your doctor at any age to check for sickle cell disease or see if you're a carrier of the gene that causes it.
If you know that your child is at risk for sickle cell disease, you can ask for testing when they are born.
Early diagnosis and treatment:
- improves your child's chances of healthy development
- reduces the risk of long-term harm caused by sickle cell disease
Treatments for sickle cell disease
People with sickle cell disease need treatment throughout their lives. This is usually delivered by different health professionals in a specialist sickle cell centre and supported by your GP.
It's also important for people with sickle cell disease to look after their own health using self care measures, such as by avoiding triggers and managing pain. Drinking plenty of fluids and staying warm help to prevent painful episodes.
A number of treatments for sickle cell disease are available.
Treatments can include :
- painkillers, such as paracetamol or ibuprofen
- stronger painkillers - these may be necessary in hospital
- antibiotics and vaccines to reduce your chances of getting an infection
- a medicine called hydroxycarbamide (hydroxyurea) to reduce symptoms
- regular blood transfusions
- an emergency blood transfusion
Treatment for people with sickle cell disease needs to be tailored to each person’s needs by the care team.
The only cure for sickle cell disease is a stem cell or bone marrow transplant. This option is only recommended for some people after consideration by the care team. They will discuss the risks and benefits with you.
Outlook for sickle cell disease
Sickle cell disease varies between individuals from mild to serious, but most people lead happy and normal lives with the right care.
Mild sickle cell disease may have very little impact on a person's day-to-day life.
But the illness can be serious enough to have a significant effect on a person's life.
It can lead to health problems like strokes, serious infections and lung problems, which can occasionally be fatal.
People with sickle cell disease tend to have shorter lives than most people. But this depends on the exact type of sickle cell disease they have, how early it is diagnosed and how it is treated.