Thalassaemia

Overview

Thalassaemia is an inherited blood disorder that affects the way your body makes haemoglobin, the protein in red blood cells that carries oxygen. This leads to fewer healthy red blood cells and causes anaemia (a shortage of red blood cells), which can make you feel tired and weak.

Thalassaemia is one of the most common inherited blood conditions worldwide. It is more common in people from Mediterranean, Middle Eastern, South Asian, and Southeast Asian backgrounds.

It can affect anyone, but it is most often seen in people whose families come from parts of the world where malaria is or was common. Both boys and girls are affected equally.

Symptoms

Common symptoms

• Tiredness and weakness
• Pale or yellowish skin
• Slow growth in children
• Swelling in the tummy (enlarged spleen)
• Darker urine

Symptoms in children

• Delayed growth and development
• Feeding difficulties
• Repeated infections
• Tummy swelling
• Poor appetite

Causes

Main causes

• A change (mutation) in the genes that control haemoglobin production.
• Inheriting the faulty genes from one or both parents.
• Being a carrier of the gene makes you a 'thalassaemia trait' – you usually have no symptoms but can pass the gene on.

Risk factors

• Having a family history of thalassaemia
• Being of Mediterranean, South Asian, Southeast Asian, Middle Eastern, or African ancestry

When to see a doctor

See a doctor urgently if:

• If you or your child have chest pain, difficulty breathing, or severe weakness, seek urgent medical help.

Book a routine appointment if:

• If you have persistent tiredness, pale skin, or a family history of thalassaemia, see your doctor for a blood test.

Diagnosis

Thalassaemia is usually diagnosed with blood tests. In many countries, newborn screening identifies it soon after birth. You may also be diagnosed during pregnancy or later in life if symptoms appear.

Tests that may be done

• Full blood count (FBC)
• Haemoglobin electrophoresis
• Genetic testing
• Prenatal testing if there is a family risk

What to expect at your appointment

Your doctor will explain the type and severity of your thalassaemia. You may be referred to a specialist haematologist (a doctor who treats blood conditions). Regular blood tests and check-ups will be arranged to monitor your health.

Treatment

Treatment depends on the type and severity. Some people need no treatment, while others need regular blood transfusions and careful monitoring. The aim is to manage symptoms and prevent complications.

Self-care at home

• Keep up with your scheduled check-ups and blood tests
• Take any prescribed supplements or medicines as advised
• Stay active but pace yourself and rest when needed
• Tell your doctor about new symptoms such as breathlessness or paleness

Medical treatments

Treatment for moderate to severe thalassaemia often includes regular blood transfusions to provide healthy red blood cells. Since transfusions can cause a build-up of iron in the body, doctors may recommend medicines that help remove excess iron (called iron chelation therapy). Some people may be offered a bone marrow (stem cell) transplant, which can be a cure in certain cases. Always discuss your options with a specialist doctor.

When is surgery considered?

In some cases, surgery may be needed to remove an enlarged spleen (splenectomy) or to treat bone problems related to severe thalassaemia. This is only considered when other treatments are not enough.

Living with this condition

Living with thalassaemia means regular medical care and paying attention to how you feel. Many people lead full, active lives with proper support. It helps to have a routine for appointments and to keep your doctor informed of any changes.

Lifestyle tips

• Avoid taking iron supplements unless your doctor says to (this is important if you have transfusions)
• Get vaccinated against infections like flu and hepatitis – ask your doctor which vaccines are recommended
• Take care with travel – some countries may require special advice for people with blood conditions
• Wear medical identification if you have a serious form of thalassaemia

Diet and exercise

Eat a balanced, healthy diet. If you receive transfusions, avoid iron-rich foods and vitamin C supplements in high doses, as they increase iron absorption. Exercise is good, but listen to your body and rest when tired.

Mental health and emotional wellbeing

Living with a long-term condition can sometimes feel overwhelming. It is normal to feel anxious or low. Talk to your care team about how you feel – they can point you to counselling or support groups.

Prevention

Thalassaemia is inherited, so it cannot be prevented if you are born with the genes. However, genetic counselling can help people understand their risk before starting a family, and prenatal testing can identify the condition early in pregnancy.

Vaccines

Vaccination is not a prevention, but it helps prevent infections that can be serious for people with thalassaemia. Make sure you are up to date with routine vaccinations, including the flu jab and hepatitis B.

Screening programmes

Screening is available for people at risk, including carrier testing and newborn screening. If you have a family history, ask your doctor about testing options.

Complications

If left untreated

• Iron overload from repeated transfusions can damage the heart and liver
• Severe anaemia can cause an enlarged spleen
• Bone deformities and fractures
• Increased risk of infections

Long-term outlook

Thanks to modern treatment, children and adults with thalassaemia are living longer, healthier lives than ever before. While it is a lifelong condition, good care and monitoring can prevent most serious problems. Many people study, work, and start families.

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