This site is intended for healthcare professionals

Sign in
Go to /sign-in page

You can view 5 more pages before signing in

Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

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:

Related pages

Create an account to add page annotations

Create a free account

Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

Connect

Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.