Thalassaemia

Also called Beta thalassaemia, Alpha thalassaemia, Thalassaemia trait

An inherited anaemia needing lifelong transfusions in its severe form. The trait is harmless, common, and repeatedly mistaken for iron deficiency.

What it is

An inherited condition affecting the production of haemoglobin. It is most common in people with ancestry from the Mediterranean, the Middle East, South Asia and South East Asia.

**Thalassaemia trait**, carrying one gene, causes no illness. It does cause a mild anaemia with small red cells, which looks exactly like iron deficiency on a blood count. People with the trait are therefore given iron they do not need, sometimes for years, which is useless and potentially harmful. Anybody from the relevant backgrounds with a persistent mild microcytic anaemia that does not respond to iron should be tested for thalassaemia rather than given more iron.

**Thalassaemia major**, the severe form, presents in infancy and requires blood transfusions every three to five weeks for life, together with iron chelation therapy to remove the iron the transfusions deposit.

Iron overload is what kills people with thalassaemia, not the anaemia. It damages the heart, liver and endocrine glands, and chelation is the treatment that prevents it. Adherence to chelation is the single largest determinant of how long somebody lives, and it is hard, particularly for teenagers.

Antenatal and newborn screening in England identifies carriers and affected babies. Couples who are both carriers have a one in four chance in each pregnancy, and genetic counselling before conceiving is available.

Stem cell transplant can cure it, and gene therapies have recently become available for some people.

Signs you might notice

Trait: usually none. A mild anaemia on a blood test that does not improve with iron.

Major, in a baby from a few months old: pallor, poor feeding, failure to thrive, irritability, jaundice, an enlarged abdomen from a big spleen and liver.

Later, if untreated: bone changes of the face and skull, delayed growth and puberty.

In treated adults: fatigue before transfusions, and complications of iron overload, including heart rhythm problems, diabetes, hypothyroidism, osteoporosis and delayed puberty.

Urgent: fever in anyone without a spleen, which is a medical emergency; breathlessness, palpitations or ankle swelling, which may mean iron-related heart disease.

How it can affect day-to-day life

The transfusion rhythm structures life: a day in hospital every few weeks, from childhood, forever. School, work and holidays all bend around it.

Chelation is the hard part. It is daily, it has side effects, and the harm from missing it is invisible for years, which is exactly the pattern that defeats adherence in adolescence. Support at that age is what determines the next forty.

Transition from paediatric to adult services is a known point of loss, as it is in congenital heart disease.

Many people have had their spleen removed and are at high risk of overwhelming infection. Lifelong penicillin, up-to-date vaccinations, and treating any fever as an emergency are essential and frequently drift.

Carrier status carries real family and reproductive implications, and testing partners before pregnancy is a kindness rather than an intrusion.

Supporting someone well

For a persistent mild anaemia with small red cells in somebody from an affected background, ask for haemoglobinopathy testing rather than more iron.

Never give iron for thalassaemia trait; it does nothing and adds to iron loading.

Take chelation therapy every day, and ask for help rather than stopping if it is unbearable; there are alternatives.

Attend the annual review, including heart and liver iron scanning, endocrine and bone assessment.

For anyone without a spleen: lifelong prophylactic antibiotics, all vaccinations, a medical alert card, and any fever treated as an emergency.

Ask about the transition plan to adult services before it happens.

Ask for partner testing and genetic counselling before pregnancy.

Ask whether transplant or gene therapy is an option.

Where to get help

A specialist haemoglobinopathy centre; a GP practice for referral and for carrier testing.

Same-day for fever in anybody without a spleen.

UK Thalassaemia Society run a helpline and are the specialist charity.

Sickle Cell Society for related inherited blood conditions.