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Pathology
Impaired production of β -chains leading to excess α-chains.
Aetiology
Autosomal recessive inherited genetic defect.
Most common inherited haematological disorder
Signs
Skeletal hypertrophy due to extramedullary haemopoiesis (frontal skull bossing,
‘hair-on-end’ skull), hydramnios in pregnancy, severe anaemia, splenomegaly
Symptoms
β Thalassaemia trait (Heterozygotes): None or mild anaemia
β Thalassaemia major (Homozygotes): Failure to thrive, stunted growth,
Investigations
Bloods: FBC, blood film, haemoglobin electrophoresis – Target Cells
Other: Genetic studies
Treatment
Medical: Folic acid, blood transfusion, desferrioxamine, bone marrow transplant
Surgical: Splenectomy
Prognosis
Variable depending on genes inherited and available supportive treatment
Haemosiderosis from repeated transfusions, recurrent infections, early death.
Key Facts
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Key Images
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Key References
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