What is sickle cell anaemia?

Sickle cell anaemia is the most common form of sickle cell disease. It is an inherited condition. This means it is passed down from parent to child through genes.

Sickle cell disease

Sickle cell disease is a group of inherited blood disorders that affect haemoglobin. Haemoglobin is the part in red blood cells responsible for carrying oxygen around your body. In this condition, abnormal haemoglobin causes red blood cells to become crescent or “sickle” shaped, instead of their normal round form. This can lead to health complications such as anaemia.

Normally, a person inherits two beta globin genes. If one of these genes has the sickle cell mutation, the person is considered a 'sickle cell carrier.'

• A sickle cell carrier may not have symptoms of the disease and may not know they carry the gene for sickle cell anaemia.
• If both parents are carriers, they could pass on 2 sickle cell genes to their child. This results in sickle cell disease.

Sickle cell disease is rare in Australia. It is more common in people from the following backgrounds:

• African
• Middle Eastern
• Mediterranean
• South Asian
• Caribbean

What are the symptoms of sickle cell anaemia?

Sickle cell anaemia may lead to various symptoms due to the sickle-shaped red blood cells. These cells don't flow easily through blood vessels and often break down quickly. This may lead to episodes of intense pain, called pain crises.

This pain may affect different parts of your body, especially the:

• chest
• tummy
• bones

People with sickle cell anaemia may also:

• feel tired and weak due to chronic anaemia, as the red blood cells don't carry enough oxygen
• have vision problems
• experience delayed growth in children
• have higher risk of infections
• have yellowing of the skin and eyes

What causes sickle cell anaemia?

In people with sickle cell anaemia, the red blood cells take on a sickle shape. Normally, red blood cells are round. This means that they can bend to go through small blood vessels and return to their usual shape. Sickle-shaped cells break down much faster than normal. This leads to anaemia because the body can't produce new red blood cells quickly enough to replace them.

When should I see my doctor?

If you have sickle cell anaemia, regular check-ups with your doctor are important to check your health and treat your symptoms.

Consider having a genetic test before starting a family or early in pregnancy. This test can help you understand if there's a chance of passing on a blood disorder. If there is a risk, you may want to discuss all options with a genetic counsellor.

How is sickle cell anaemia diagnosed?

Sickle cell anaemia is usually diagnosed through newborn screening programs. A blood test checks for abnormal haemoglobin (the protein in red blood cells) in babies shortly after birth.

To confirm the diagnoses, a special blood test can closely look at the haemoglobin and tell you if the sickle cell gene is present.

If you carry the gene for sickle cell disease, your doctor may suggest screening your immediate family. That may be your parents, children, brothers or sisters.

How is sickle cell anaemia treated?

Treatment for sickle cell anaemia focuses on managing symptoms and preventing complications. Common treatments include:

• pain-relief medicines to treat pain during sickle cell pain crises
• medicines that lower sickling of red blood cells such as Hydroxyureas
• regular blood transfusions may help reduce anemia and lower the risk of complications
• bone marrow transplants and stem cell transplants may cure sickle cell disease in some cases with a compatible donor

Living with sickle cell anaemia

People who have sickle cell disease can live full lives, enjoying most of the activities that other people do but living with sickle cell anaemia means you may need regular medical checks to prevent and manage complications.

There are things you can do to help prevent complications of sickle cell anaemia:

• drink plenty of fluids
• get regular vaccinations such as influenza or meningococcal disease to help protect against the higher risk infections
• antibiotics may help reduce your risk of infections
• avoid extreme temperatures

It is important to adopt a healthy lifestyle if you have sickle cell disease. You can try healthy lifestyle tips, such as:

• manage your stress by learning how to relax and coping techniques
• get enough good quality sleep
• exercise regularly
• eat healthy and follow a heart healthy diet
• quit smoking

If you are planning a pregnancy, you may want to think about genetic testing or genetic counselling.

What are the complications of sickle cell anaemia?

Sickle cell anaemia can lead to various complications. The abnormal shape of red blood cells may block blood vessels and damage organs over time. Complications may include:

• acute chest syndrome — a serious lung condition that may cause chest pain, fever and difficulty breathing
• organ damage — reduced blood flow can harm organs such as your liver, spleen, kidneys, heart and lungs
• stroke — blocked blood flow to the brain may increase your risk of stroke
• infection — people with sickle cell anaemia more prone to infections, such as pneumonia
• delayed growth — children with sickle cell anaemia may grow more slowly due to anaemia and other complications

Long-term, these complications can affect quality of life and may need ongoing medical care and preventive treatments.

Can sickle cell anaemia be prevented?

Sickle cell disease is inherited and cannot be prevented.

Sickle cell disease isn't contagious, this means you can't catch it.

Resources and support

For support with sickle cell anaemia, visit the Thalassaemia and Sickle Cell Australia website.

Australian Sickle Cell Advocacy provides support for people living with sickle cell disease.

Visit our genetic disorders guide to learn more about genetic disorders.

You can also call the healthdirect helpline on 1800 022 222 (known as NURSE-ON-CALL in Victoria). A registered nurse is available to talk with 24 hours a day, 7 days a week.

Do you prefer to read in languages other than English?

You can also find information on sickle cell anaemia in languages other than English on the Thalassaemia and Sickle Cell Australia website.