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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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