What are the symptoms of thalassaemia?

Some people have a mild form with few or no noticeable symptoms, while more significant thalassaemia can cause ongoing anaemia. Possible features include reduced stamina, headaches, a fast heartbeat, poor concentration, and shortness of breath during activity. Children with more severe disease may have poor growth, delayed puberty, or changes in the bones of the face. Yellowing of the skin or eyes, dark urine, and an enlarged abdomen can reflect increased breakdown of red blood cells or an enlarged spleen. Symptoms alone cannot establish the diagnosis.

Arrange a medical assessment if fatigue, [Pale Skin](/symptoms/pale-skin/), breathlessness, or unexplained anaemia continues. A [Blood Test](/treatments/diagnostics-and-screening/blood-test/) can examine blood cells and haemoglobin, and further testing may identify the type of thalassaemia. Do not start iron supplements unless testing shows iron deficiency, because thalassaemia and iron deficiency are different problems. People planning a pregnancy may ask about [Premarital Screening](/treatments/diagnostics-and-screening/premarital-screening/) and genetic counselling.

Seek urgent help for severe breathlessness at rest, chest pain, fainting, marked drowsiness, or a racing heartbeat with weakness. Contact a clinician promptly for increasing jaundice, abdominal swelling, worsening exercise tolerance, or a child whose growth is slowing. Sudden severe symptoms need assessment even when thalassaemia has already been diagnosed.

Ask whether the symptoms fit [Thalassaemia](/conditions/thalassaemia/) or another cause of [Anaemia](/conditions/anaemia/), which tests are needed, and whether family members should be assessed. Ask how to monitor haemoglobin and when specialist follow-up is appropriate.