Thalassaemia: an inherited anaemia explained simply

What it is, in plain words

Thalassaemia is an inherited condition in which the body makes too little of one of the protein chains that build haemoglobin, the substance in red blood cells that carries oxygen. The cells produced are small, pale and fragile, so they break down early and oxygen delivery drops. It is not caused by a poor diet, and taking iron does not correct it.

Signs to look out for

• Constant tiredness and breathlessness on effort
• Pale or slightly yellow skin and eyes
• Poor growth and delayed puberty in children with severe forms
• Enlarged spleen causing a full or heavy feeling on the left side
• Bone changes of the face and skull in untreated severe forms

Why it happens

You inherit it: each parent passes one altered gene. One altered gene gives thalassaemia minor (trait), usually mild or silent. Two altered genes can give intermedia or major forms, which appear in the first two years of life. It is most common in families with Mediterranean, Middle Eastern, African, Indian or South-East Asian origins.

How doctors confirm it

A full blood count shows small red cells with a normal or high ferritin, which already separates it from iron deficiency. Haemoglobin electrophoresis or HPLC identifies the abnormal haemoglobin pattern, and genetic testing confirms the exact type. Family and pre-conception screening is offered when both partners carry a trait.

Treatments and solutions

• Thalassaemia minor: no treatment, just avoid unnecessary iron supplements and confirm the diagnosis so you are not treated for iron deficiency for years
• Regular blood transfusions for major forms, usually every three to five weeks, to keep haemoglobin high enough for normal growth
• Iron chelation medicines to remove the iron that transfusions unavoidably build up, because iron overload damages the heart, liver and hormone glands
• Folic acid supplements to support red cell production
• Removal of the spleen in selected cases, and stem cell transplant, which can cure severe disease in suitable young patients

Living with it day to day

Live with a written care plan: keep transfusion and chelation appointments, have yearly heart and liver iron scans, protect yourself against infections with the recommended vaccines, and ask for genetic counselling before planning a pregnancy.

When to seek medical help

See a doctor quickly for a fever above 38 C if your spleen has been removed, for sudden severe tiredness or breathlessness, or for pain and swelling in the abdomen.

This article explains general health information in simple language. It does not replace advice from your own doctor.