Beta Thalassaemia

Pathology

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

Aetiology

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

Symptoms

• 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.

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.

Investigations

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

Treatment

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

Complications

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

Prognosis

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