An early diagnosis of sickle cell anaemia can save a life. Learn to spot the symptoms in the latest part of our A-Z of health by doctors at Great Ormond Street Hospital
What is sickle cell anaemia (SCA)?
SCA is an inherited blood disorder caused by changes in haemoglobin - the substance in red blood cells that carries oxygen around the body. The condition occurs mostly in black people and less commonly in those of Eastern Mediterranean and Indian origin.
The first signs usually appear after six months of age, and include fatigue, headaches, shortness of breath on exertion, pallor and jaundice. While the condition is chronic, sudden sickle cell 'crises' can be brought on by infection, cold weather and dehydration, or it may occur for no apparent reason.
How common is it?
There are different types of the sickle cell disorder. SCA is the most common and affects millions. Each year, about 3,500 babies in the UK are born carrying the abnormal sickle haemoglobin gene. Two hundred of these will develop the disorder.
How do children get it?
Children who inherit two copies of the faulty gene, one from each parent, will develop SCA. Those who inherit it from only one parent will not inherit the disease, but will carry the sickle cell gene. If they have a child with another carrier, that child may be affected.
In SCA, the gene that tells the body how to make haemoglobin does not work normally. This results in an abnormal haemoglobin, which, when exposed to low oxygen levels, forms long thin rods leading to the characteristic stiff and deformed red blood cells.
Children's symptoms
Although sickle cell disorders are present from birth, symptoms are rarely displayed before the age of three to six months. Symptoms range from mild to very severe. Childcare practitioners should be aware of the following:
- Painful swelling of hands and feet is prevalent in young children
- Enlarged spleen
- Anaemia
- Fatigue, pallor and shortness of breath
- Unpredictable pain in various joints in the body
- Palpitations
- Strokes
- Eye problems
- Blood in urine
- Delayed growth
- Vulnerability to infections by certain bacteria including those that cause pneumonia and meningitis.
Treatment
At present, there is no cure for SCA. However, medical treatment has greatly improved and can include:
Oral antibiotics: Giving young children penicillin twice a day from two months of age to at least five years can prevent pneumococcal infection and early death.
Pain relief: Prompt treatment of sickle crises with hydration and appropriate analgesia.
Blood transfusions: These can prevent some of the complications of sickle cell anaemia by increasing the number of normal red blood cells.
Ensuring children with SCA receive regular health maintenance and good nutrition is important. With appropriate care, many children remain in reasonably good health, and live full and productive lives.
Diagnosis
Early diagnosis of SCA is crucial to ensuring children receive the correct treatment. Blood tests for sickle cell disease can be performed on newborn infants and are instrumental in ensuring early diagnosis. Sickle cell screening is to be introduced nationwide later this year. This is based on umbilical cord blood sampling.
The NHS national reform plan has pledged that, by 2004, there will be an effective and appropriate screening programme for sickle cell disease.
Undiagnosed SCA
If a child's symptoms are not diagnosed there are two complications:
- The risk of early death from bacteria through not taking oral penicillin.
- In young children, splenic sequestration crises (pooling of a large proportion of the child's blood in the spleen) can go unnoticed and be fatal. Carers and parents can be easily taught to feel the spleen and diagnose this condition early.
Receiving support
Carers and parents are advised to find out about the disease to enable them to recognise the symptoms at an early age, so the child can receive immediate treatment.
The Sickle Cell Society, a registered charity, offers information and support to parents, carers and those affected by the condition.
