This site is intended for healthcare professionals

Go to /sign-in page

You can view 5 more pages before signing in

Haemoglobinopathies

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

The haemoglobinopathies are characterized by abnormalities in the production of haemoglobin. They are common. WHO figures estimate that 5% of the world population are carriers for a haemoglobin disorder.

The haemoglobinopathies be subdivided into:

  • structural haemoglobin variants:
    • often due to single amino acid substitutions in either the alpha or beta globin chains
    • a common example is the Glu to Val mutation at position six of the beta globin chain in sickle cell disease

  • imbalanced globin chain synthesis - the thalassaemias

  • hereditary persistence of foetal haemoglobin:
    • genetic defects in the switch from foetal to adult haemoglobin synthesis
    • foetal haemoglobin persists into adult life

Create an account to add page annotations

Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed 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.