Beta Thalassaemia

Beta Thalassaemia

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Impaired production of β-chains, leading to an excess of α-chains, is the root of the pathology associated with this condition.


Autosomal recessive inherited genetic defect is the most common of the inherited haematological disorders.


  • β Thalassaemia trait (Heterozygotes): Mild or no anaemia may present.
  • β Thalassaemia major (Homozygotes): Victims may experience failure to thrive, stunted growth, and other signs.


Patients may display cases of extramedullary haemopoiesis, which is indicated by a frontal skull bossing and the 'hair-on-end' skull appearance. In pregnancies, hydramnios may occur. Severe anaemia and splenomegaly can also be detected.


  • Bloods: FBC, blood films, and haemoglobin electrophoresis – Target Cells.
  • Other: Genetic studies.


  • Medical: Folic acid, blood transfusions, desferrioxamine, and bone marrow transplant.
  • Surgical:Splenectomy.


Constant transfusions may lead to haemosiderosis, recurrent infections, and early death.


The prognosis of this disorder is variable, and depends on the inherited genes and the availability of supportive treatment.

Figure 7.1 'Hair-on-end' appearance on skull XR in a child with β Thalassaemia Major.

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