Sickle Cell

Written by on June 22, 2021

 

Sickle cell anemia is an inherited red blood cell disorder in which there aren’t enough healthy red blood cells to carry oxygen throughout your body. Normally, the flexible, round red blood cells move easily through blood vessels. In sickle cell anemia, the red blood are shaped like sickles or crescent moons.
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 unusually shaped red blood cells that 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, although treatment can help manage many of the symptoms.

Symptoms of sickle cell disease

People born with sickle cell disease tend to have problems from early childhood, although some children have few symptoms and lead normal lives most of the time.

The main symptoms of sickle cell disease are:

  • painful episodes called sickle cell crises, which can be very severe and last up to a week
  • an increased risk of serious infections
  • anaemia (where red blood cells cannot carry enough oxygen around the body), which 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 a gene that affects how red blood cells develop.

If both parents have the gene, there’s a 1 in 4 chance of each child they have being born with sickle cell disease.

The child’s parents often will not have sickle cell disease themselves and they’re only carriers of the sickle cell trait

Screening and testing for sickle cell disease

Sickle cell disease is often detected during pregnancy or soon after birth.

Screening for sickle cell disease in pregnancy is offered to all pregnant women in England to check if there’s a risk of a child being born with the condition, and all babies are offered screening as part of the newborn blood spot test (heel prick test).

Blood tests can also be carried out at any age to check for sickle cell disease or see if you’re a carrier of the gene that causes it.

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.

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.

A number of treatments for sickle cell disease are available.

For example:

  • drinking plenty of fluids and staying warm to prevent painful episodes
  • painkillers, such as paracetamol or ibuprofen (sometimes treatment with stronger painkillers in hospital may be necessary)
  • daily antibiotics and having regular vaccinations to reduce your chances of getting an infection
  • a medicine called hydroxycarbamide (hydroxyurea) to reduce symptoms
  • regular blood transfusions if symptoms continue or get worse, or there are signs of damage caused by sickle cell disease
  • an emergency blood transfusion if severe anaemia develops

The only cure for sickle cell disease is a stem cell or bone marrow transplant, but they’re not done very often because of the risks involved.

Outlook for sickle cell disease

Sickle cell disease varies between individuals from mild to serious, but most people with it lead happy and normal lives.

Mild sickle cell disease may have no 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.

Overall, the life expectancy for someone with sickle cell disease tends to be shorter than normal, but this can vary depending on the exact type of sickle cell disease they have, how it’s treated and what problems they experience.

 

Carriers of sickle cell (sickle cell trait)

A carrier of sickle cell is someone who carries the gene that causes sickle cell disease but does not have sickle cell disease themselves. It’s also known as having the sickle cell trait.

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.

You can request a blood test to check if you carry the sickle cell trait from your GP surgery or the nearest sickle cell and thalassaemia centre.

 

The sickle cell support group

Finding out as much as possible about sickle cell disease may help you feel more in control of your illness.

The Sickle Cell Society is a UK charity for people with sickle cell disease.

Their website has a wide range of useful information, including news about research into the disorder.

 

Sickle cell disease can cause a wide range of symptoms.These can start from a few months of age, although many children have few or no symptoms if treatment is started early on.The main symptoms are:
  • painful episodes
  • getting infections often
  • anaemia

Painful episodes

Episodes of pain known as sickle cell crises are one of the most common and distressing symptoms of sickle cell disease.

They happen when blood vessels to part of the body become blocked.

The pain can be severe and lasts for up to 7 days on average.

A sickle cell crisis often affects a particular part of the body, such as the:

  • hands or feet (particularly in young children)
  • ribs and breastbone
  • spine
  • pelvis
  • tummy
  • legs and arms

How often someone with sickle cell disease gets episodes of pain varies a lot.

Some people may have one every few weeks, while others may have less than 1 a year. The average is 1 bad episode a year.

It’s not always clear what triggers bad pain, but sometimes painful episodes can be caused by the weather (such as wind, rain or cold), dehydration, stress or strenuous exercise.

Infections

People with sickle cell disease are more vulnerable to infections, particularly when they’re young.

Infections can range from mild, such as colds, to much more serious and potentially life threatening, such as meningitis.

Vaccinations and daily doses of antibiotics can help reduce the risk of many infections.

Anaemia

Nearly all people with sickle cell disease have anaemia, where the haemoglobin in the blood is low.

Haemoglobin is the substance found in red blood cells that’s used to transport oxygen around the body.

This does not usually cause many symptoms, but sometimes it can get worse if you become infected with the virus that causes slapped cheek syndrome (parvovirus).

This can lead to a sudden drop in the number of red blood cells and may cause additional symptoms, such as headaches, a rapid heartbeat, dizziness and fainting.

It’s usually treated with a blood transfusion.

Other problems

Sickle cell disease can also sometimes cause a wide range of other problems.

These include:

CarriersSickle cell disease

If you’re a carrier of sickle cell, it means you carry one of the genes that causes sickle cell disease, but you do not have the condition yourself.It’s also known as having the sickle cell trait.People who carry sickle cell will not develop sickle cell disease, but may be at risk of having a child with sickle cell disease and may occasionally need to take precautions to stop them becoming unwell.You can find out if you’re a carrier of sickle cell by having a simple blood test.The NHS Sickle Cell and Thalassaemia Screening Programme has a detailed leaflet about being a sickle cell carrier (PDF, 773kb).

Who can be a sickle cell carrier?

Anyone can be a carrier of sickle cell, but it’s much more common in people from certain ethnic backgrounds.

In the UK, most people who carry the sickle cell trait have an African or Caribbean family background.

Testing for sickle cell carriers

Screening for sickle cell disease is offered to all pregnant women in England, although most women will be at low risk and will not need to have a blood test to check if they’re a carrier.

Find out more about screening for sickle cell disease in pregnancy

Anyone can ask to have a free blood test to find out if they’re a carrier at any point.

This can be useful if:

  • you want to find out if you’re at risk of having a child with sickle cell disease
  • you have a family history of sickle cell disease or carrying the sickle cell trait
  • your partner carries the sickle cell trait

You can request the test from your GP surgery or nearest genetic counsellor, who’ll discuss the result and implications with you if you’re found to carry sickle cell.

Having children

If you carry the sickle cell trait, you’re at risk of having children with sickle cell disease, although this can only happen if your partner is also a carrier or has sickle cell disease themselves.

If you’re planning to have a child and you know you’re a carrier, it’s a good idea for your partner to be tested.

If you and your partner both carry sickle cell, there’s a:

  • 1 in 4 chance each child you have will not have sickle cell disease or be a carrier
  • 1 in 2 chance each child you have will be a carrier, but will not have sickle cell disease
  • 1 in 4 chance each child you have will be born with sickle cell disease

If both of you are carriers and you’re planning to have a baby, talk to your GP about getting a referral to a genetic counsellor, who can explain the risks to your children and what your options are.

These include:

  • having tests during pregnancy to see if your baby will have sickle cell disease
  • adopting a child
  • trying IVF with a donor egg or sperm
  • trying pre-implantation genetic diagnosis (PGD)

PGD is similar to IVF, but the resulting embryos are tested to check that they do not have sickle cell disease before they’re implanted in the womb.

The Human Fertilisation and Embryology Authority (HFEA) has more information about PGD.

Rare health risks

You’re not at risk of developing sickle cell disease if you carry the sickle cell trait.

The only time you may be at risk of health problems is in rare cases where you might not get enough oxygen, such as:

  • having surgery under general anaesthetic – make sure medical staff are aware you carry the sickle cell trait before your operation
  • during regular intensive physical activity – make sure you drink plenty of fluids during training and avoid extreme exhaustion

There’s also a very small risk of developing kidney problems associated with carrying sickle cell.

Apart from these uncommon situations, you can lead a completely normal and healthy life if you’re a sickle cell carrier.

People who carry other blood disorders

People who are carriers of the sickle cell trait are also at risk of having a child with a blood disorder if their partner is a carrier of a different type of blood disorder.

You can find more detailed information about some of the other types of carrier in these leaflets:

Read more about how sickle cell disease is treated and living with sickle cell disease.

Find out more about being a sickle cell carriers


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