14508 Thalassemias

Overview

Thalassemia (also spelled thalassaemia) is an inherited blood condition that affects hemoglobin, the part of red blood cells that carries oxygen around the body. People with thalassemia make fewer healthy red blood cells than normal, which can lead to anemia (a shortage of healthy red blood cells). The condition ranges from very mild to severe.

Thalassemia is one of the most common inherited blood conditions in the world. It is especially common in people with roots in the Mediterranean, Middle East, South Asia, and Southeast Asia, but it can affect any family.

Thalassemia can affect people of any gender or background. Severe types are often found in childhood. Mild types may not be found until adulthood, often during a check-up, a blood test, or pregnancy.

Symptoms

Common symptoms

• Feeling tired or weak
• Pale or slightly yellow skin
• Shortness of breath with activity
• Dizziness or headaches
• Dark urine
• A swollen or full feeling in the belly

Symptoms in children

• Slow growth or poor weight gain
• Pale skin and low energy
• Poor feeding or irritability
• A belly that looks larger than expected, caused by an enlarged spleen

Symptoms in older adults

• Worsening fatigue and shortness of breath
• Bone pain or fragile bones
• Irregular heartbeats, chest discomfort, or ankle swelling
• More infections than usual

Causes

Main causes

• Thalassemia is caused by changes (mutations) in the genes that control hemoglobin production.
• The genes are passed down from parents to children.
• A child usually needs inherited changed genes from both parents to develop a severe type.
• People with only one changed gene are called carriers and usually have mild or no symptoms.

Risk factors

• A family history of thalassemia
• Being a carrier of the thalassemia trait
• Ancestry from the Mediterranean, Middle East, South Asia, Southeast Asia, or parts of Africa

When to see a doctor

See a doctor urgently if:

• If you or your child has severe tiredness, rapid breathing, chest pain, or a swollen painful belly, seek urgent medical help.

Book a routine appointment if:

• If you feel tired, pale, or short of breath for more than a couple of weeks.
• If you have unexplained belly fullness or dark urine.
• If you have a family history of thalassemia and are planning a pregnancy.
• If you have had a blood test result suggesting anemia or small red blood cells.

Diagnosis

Thalassemia is usually diagnosed with blood tests. In the UK, routine screening for thalassemia is offered in early pregnancy and through newborn screening. If a blood test suggests thalassemia, your doctor will refer you to a blood specialist.

Tests that may be done

• Full blood count to check red blood cells and hemoglobin
• Blood film to look at the size and shape of red blood cells
• Hemoglobin electrophoresis to identify abnormal hemoglobin
• Iron studies to check iron levels
• Genetic tests to find specific gene changes

What to expect at your appointment

You will first have a simple blood test. If thalassemia is possible, you will be referred to a haematologist (a doctor who treats blood conditions). The specialist will explain the type, what it means for your health, and whether family testing or genetic counseling is recommended.

Treatment

Treatment depends on the type and severity. Many people with mild thalassemia need no treatment, just regular checks. People with moderate or severe thalassemia usually need long-term support from a specialist team.

Self-care at home

• Keep all appointments with your GP and specialist.
• Ask which vaccinations you need and keep them up to date.
• Do not take iron supplements or over-the-counter vitamins without asking your doctor first.
• Rest when you are tired and pace your activities.
• Tell your care team if you are pregnant, planning pregnancy, or preparing for an operation.

Medical treatments

For moderate and severe thalassemia, treatment may include regular blood transfusions to give the body healthy red blood cells. Because transfusions can lead to too much iron in the body, doctors may prescribe a medicine called an iron chelator to help remove the extra iron. Other medicines may be used to support the bone marrow to produce more healthy hemoglobin. Your specialist will choose the safest option for your type and needs.

When is surgery considered?

Surgery is not needed for most people with thalassemia. Some people may need removal of the spleen (splenectomy) if it is causing severe symptoms. A bone marrow or stem cell transplant may be an option for some children and adults with severe thalassemia, but it is a major procedure and is only offered in specialist centres after careful discussion.

Living with this condition

Living with thalassemia is easier when you have a clear care plan. Understand your type of thalassemia and whether you are a carrier or have the disease. Keep a list of your medicines and appointments. Let your care team know about any changes in how you feel.

Lifestyle tips

• Wash your hands often and avoid people with known infections.
• Do not smoke and limit alcohol.
• Manage stress with rest, hobbies, and talking to people you trust.
• Wear a medical alert bracelet or carry information about your type of thalassemia if you have a severe form.

Diet and exercise

Eat a balanced diet with plenty of vegetables, fruits, whole grains, and lean protein. Include calcium and vitamin D for bone health. You may not need extra iron, so avoid iron-rich supplements unless your doctor says they are safe. Regular physical activity like walking or gentle swimming is good, but ask your doctor about limits if you have severe anemia, an enlarged spleen, or heart problems.

Mental health and emotional wellbeing

Living with a long-term condition can feel heavy at times. It is normal to feel frustrated, worried, or sad. Talking to your care team, a counsellor, or a support group can help. If you ever have thoughts of harming yourself, get help immediately — call your local emergency number or a local crisis support service.

Prevention

Thalassemia cannot be prevented because it comes from genes you inherit. However, carrier screening and genetic counseling can help people understand their chances of having a child with thalassemia and learn about their options before or during pregnancy.

Vaccines

Keep up to date with all recommended vaccines. If your spleen is enlarged or has been removed, you may need extra vaccines to protect against serious infections. Ask your healthcare provider which vaccines are right for you.

Screening programmes

Many countries, including the UK, offer screening for thalassemia as part of routine prenatal care and newborn screening. Carrier testing is also available for people with a family history or at higher risk.

Complications

If left untreated

• Severe anemia that can make daily activities difficult
• Slow growth and delayed puberty in children
• Bone deformities and bone pain
• An enlarged spleen and increased risk of serious infections
• Heart, liver, and hormone problems from iron overload

Long-term outlook

The outlook is much better than it used to be. People with mild thalassemia usually live a normal lifespan with little or no treatment. People with severe thalassemia can also live full, active lives with regular care, modern treatments, and good support. Researchers continue to develop better treatments and quality of life.

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