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Pathology
Impaired production of α-chains leading to excess β-chains.
HBA1 and HBA2 genes involved
Aetiology
Autosomal recessive inherited genetic defect.
Signs
Depending on number of chains affected ranging from no symptoms, microcytic anaemia, jaundice or death.
Symptoms
One Mutation: Silent Carrier - Asymptomatic
Two Mutations: α Thalassaemia Trait - Asymptomatic or mild anaemia
Three Mutations: Microcytic anaemia, jaundice, hepatosplenomegaly
Four Mutations: Hydrops fetalis, fetus unable to survive leading to still birth
Investigations
Bloods: FBC, blood film, haemoglobin electrophoresis
Other: Genetic studies
Treatment
Medical: Folic acid, red cell transfusion, desferrioxamine (Iron chelation)
Surgical: Splenectomy, bone marrow transplant
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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