Blood, immune & lymphGeneticICD-10 D56
Thalassaemia
Also called: Thalassemia, Beta thalassaemia major
Inherited disorders of haemoglobin production causing anaemia. Carriers are healthy; severe forms need lifelong transfusions.
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Causes
- Mutations in alpha- or beta-globin genes
Risk factors
- Mediterranean, Middle Eastern, South Asian, South-East Asian ancestry
Symptoms
- Severe anaemia from infancy (major)
- Poor growth
- Bone deformities
- Enlarged spleen
- Carriers: mild anaemia with small red cells
Diagnosis — tests and examinations
- Blood count and film
- Haemoglobin electrophoresis
- Genetic testing
Treatment
Medicines and medical treatment
- Regular transfusions
- Iron chelation (deferasirox)
- Luspatercept
- Gene therapy (betibeglogene)
Operations and procedures
- Stem cell transplant
- Splenectomy in selected cases
Self-care, home remedies and lifestyle
- Avoid iron supplements unless deficient
Possible complications
- Iron overload of heart and liver
- Bone disease
Prevention
- Carrier screening and counselling
Outlook
Improved markedly with chelation; transplant and gene therapy can cure.
When to see a doctor
Get tested if planning a family in a high-prevalence group.
Sources and further reading
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