B thalassaemia major
= very severe anaemia at 1-2 years of age
Clinical features:
- Anaemia
- Short stature
- Enlarged liver and spleen 'extramedullary hemopoiesis’
- Thalassaemic faces: maxillary hypertrophy, abnormal dentition
Treatment:
- Transfusion
- Iron chelation therapy: desferrioxamine
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