Thalassemia

Thalassemia is a group of inherited blood disorders in which faulty genes reduce the production of working haemoglobin, so the body makes fewer healthy red blood cells. It is most common in people of particular ancestral backgrounds; carriers, with one faulty gene, usually have no health problems but can have affected children. A child is born with the condition only after inheriting faulty genes from both parents; the main types are alpha and beta thalassaemia, and beta thalassaemia major is the most severe. Severe forms cause anaemia with tiredness, breathlessness, palpitations and pale skin, and can lead to slowed growth, fragile bones, reduced fertility and iron overload; milder forms may go unnoticed until adulthood. Blood tests confirm the diagnosis. Regular transfusions treat anaemia, iron chelation removes excess iron, and a stem cell or bone marrow transplant is the only possible cure, though risky; severe types need lifelong specialist care.

Seek urgent care for unusual bleeding or bruising, breathlessness at rest, or a swollen painful leg. See a doctor for persistent tiredness, pale skin, or any symptom of anaemia in a man or a woman after the menopause, which always needs a cause to be found. Call the local emergency number for any symptom that is sudden and severe. This page is a reference for healthcare professionals and does not replace an assessment.