Clinical features

Patients with thalassaemia major present within the first year of life with the following features:

• failure to thrive (1)
• intermittent infection
• anaemia (1)
• hepatosplenomegaly (1)
• massive expansion of the marrow leads to serious bone deformities (1) with:
  • typical mongoloid facies
  • frontal bossing of the skull
  • prominent maxillae
  • thinning and trabeculation of the long bones and bones of the hands and feet.

At birth babies with thalassaemia major are asymptomatic until the age of 4-6 at which time fetal heamoglobin (Hb F) is replaced by Adult heamoglobin (Hb A) (1)

If untreated then eventually the progressive anemia and metabolic stress will lead to cardiac failure and infection and eventually death by the age of five (1).

Reference:

• (1) Standards for the Clinical Care of Children and Adults with Thalassaemia in the UK, United Kingdom Thalassaemia Society 2008