Sickle cell disorder in children : University College London Hospitals NHS Foundation Trust

What is sickle cell disorder (SCD)?

SCD is a lifelong condition that affects the body’s red blood cells. It is the most common inherited genetic disease in the UK – every day a child is born with sickle cell disorder.

As it is an inherited condition, it cannot be caught from others with SCD. Parents may have the disorder themselves, or they may be carriers of the sickle cell gene or an abnormal haemoglobin. If both parents pass their sickling gene to their child, he/she will be born with SCD.

In sickle cell disorder, the red blood cells can’t maintain their round shape as they squeeze through narrow blood vessels. They then become crescent or sickle-shaped, giving the name to the condition.

The red blood cells are also sticky, making the other blood cells and the vessels they travel in sticky too. The sticky cells can stop the blood from flowing. This can result in pain and other problems in the organs where sickling occurs. This is called a sickle cell crisis.

The good news is that we can do a lot to prevent sickle cell crises. Many people with SCD lead normal lives – they socialise, study, work and have a family.

Fatigue (feeling tired or weak)
Pain
Jaundice (yellowing of the whites of the eyes)
Shortness of breath
Dizziness
Headaches
Symptoms of infection, such as fever.

Anaemia
Infections
Gallstones
Joint damage or destruction
Loss of spleen function (making your child prone to infections)
Damage to kidneys
Leg ulcers
Visual impairment
Neurological damage which may lead to stroke
Erectile dysfunction (priapism).

If your child has a sickle cell disorder, it means that they have inherited two abnormal haemoglobin genes, one from each parent. One of these genes has to be a sickle gene. The other gene can be a sickle gene or a beta thalassaemia gene. Or it can be another abnormal haemoglobin gene, such as haemoglobin C, haemoglobin D, haemoglobin O Arab.

Carriers of sickle cell have one sickle cell gene only and the other haemoglobin gene is normal. If both parents are carriers, the risk that their child will have SCD is one in four. If one person has the disorder and the other is a carrier, the risk is greater – one in two.

We will talk to your child about this in detail when they enter their teenage years. This is to make sure they understand the risk of their children inheriting SCD too.

A simple painful crisis is when your child has pain but is otherwise well. You may be able to manage it at home by giving your child painkillers, fluids and keeping them warm. But if the pain becomes worse your child may need stronger painkillers in hospital. We can also then treat the underlying cause (trigger) of the crisis and any complications relating to their condition.

Sometimes your child may feel unwell from the start of the crisis even if it’s not very painful. This is not a simple painful crisis. If your child is unwell even if they have no pain, you should always contact us. We will need to assess your child to see if they need treatment or are developing any problems.

If your child has frequent or severe crises, their team will talk to you about the treatment options. They may include starting hydroxyurea or a long-term blood transfusion programme.

Some people have also had a bone marrow or stem cell transplant that has cured their sickle cell disorder.

Gene therapy is another treatment option available in clinical trials and privately. This is when a normal gene is inserted into the patient’s genes to allow them to produce normal haemoglobin. There is currently an application to have gene therapy funded through the NHS. So, we hope this will be a treatment option for teens and younger adults in the future.

Please go to the Children’s Emergency Department (A&E). A paediatric specialist will see you and discuss your child’s problems with the haematologist on call.

The following symptoms require immediate medical attention:

Fever: 38°C or above
Feeling very unwell
Pain that cannot be controlled with painkillers
New weakness, particularly if felt more on one side than the other
If you think your child is much more anaemic than usual.

Common triggers of a sickle cell crisis include:

infection
stress
dehydration
cold or hot weather
sudden changes in temperature.

Sometimes there is no trigger and a crisis happens out of the blue.

There are things you can do to help your child stay well and prevent sickle cell crises. It’s important that:

They take all medicines as instructed.
They drink enough fluids and have a good balance of nutrition and activity.
Infections are treated quickly.
Their vaccinations are up to date.
Your child is warm at all times. If you go swimming, make sure you dry them off quickly.
You help your child to develop strategies to cope with life’s ups and downs. We know that stress is an important factor in sickle cell disorder.
You attend your child’s clinic appointments so that we can review their health and monitor them for any complications.

In the past we only offered hydroxyurea if a child had a lot of problems with their sickle cell disorder. A recent study known as baby HUG showed good effects and tolerance of hydroxyurea in newborn babies. We now offer parents hydroxyurea as a preventative treatment option before any problems occur.

Attending your child’s clinic appointments is a requirement stated in the National Standards produced by the Sickle Cell Society and NHS England. These appointments are every three months until your child is two years old, and then every six months. If your child is taking hydroxyurea, we will see them every three months regardless of their age. If there are any problems or complications, we will see your child more often.

If your appointment is inconvenient, please change it. We will do our best to schedule an appointment that is convenient for you and your child.

For more information on how to stay well, visit our web page ‘Medications, vaccinations and travel in sickle cell disorder’.

As your child gets older, we will show them how to take more responsibility for their health. This is to make sure that they are able to look after themselves when they leave home to live independently. Looking after their health is as important for them as learning the skills needed for a day-to-day adult life, such as paying bills or working.

This process is called transitioning. We will help and support them throughout that time. Transitioning happens gradually over their teenage years. By the time your child is 18, they will feel confident in:

their knowledge about their condition
keeping their clinic appointments and attending them on their own if they wish
ordering their medicines
organising their vaccinations.

As your child gets older, they may want to talk to the team looking after them in private. They may have questions they would like to ask but may feel uncomfortable to talk to you. This is normal and we will be happy to see them on their own.

Haematology admin team:

uclh.redcelladminteam@nhs.net

Haematology clinical nurse specialists (CNSs):

uclh.redcell.cnsteam@nhs.net

Haematology advice line (office hours, adults and children):

020 3447 7359

Adult haematology advice line (out of hours):

07852 220 900

Paediatric helpline (out of hours):