Definition
- Inherited reduction in alpha or beta globin chain synthesis causing ineffective erythropoiesis and haemolysis
Clinical Features
- Severe anaemia and growth retardation
- Hepatosplenomegaly
- Frontal bossing and maxillary overgrowth
- Delayed puberty from iron induced hypogonadism
- Cardiac dysfunction from iron overload, the leading cause of death
Pathology
- Marrow expansion with thin cortices and wide marrow spaces
- Osteoporosis from marrow expansion, hypogonadism and endocrine failure
- Extramedullary haematopoiesis
Investigations
- Hair on end skull appearance
- Coarse trabecular pattern and widened medullary cavities
- Premature physeal closure, often of the proximal humerus and distal femur
- DEXA for osteoporosis
- MRI for paravertebral extramedullary haematopoiesis causing cord compression
Management
- Chronic transfusion keeping pre transfusion Hb about 9 to 10.5
- Iron chelation with desferrioxamine, deferasirox or deferiprone
- Bisphosphonates, hormone replacement, vitamin D and calcium for osteoporosis
- Fracture fixation is technically demanding through thin cortices and wide canals
- Correct limb length discrepancy from premature physeal closure as needed
- HSCT is curative in selected patients
Complications
- Pathological and fragility fractures
- Desferrioxamine toxicity causing metaphyseal dysplasia and growth failure
- Back pain and vertebral collapse
- Cord compression from extramedullary haematopoiesis
- Perioperative cardiac risk from iron overload cardiomyopathy
Reviewed by Professor Phong Tran, Head of Orthopaedic Surgery, Western Health. Last updated 10 October 2026.