Haemoglobinopathies

Abstract

Haemoglobinopathies are inherited disorders of the globin component of haemoglobin. Genetic mutations lead to an altered structure of haemoglobin, as in sickle cell disease, or reduced quantity of haemoglobin, as in thalassaemia. Significant haemoglobinopathies are usually detected shortly after birth. Milder forms can present later in life, with anaemia or other complications, which is why it is important for GPs to have an understanding of haemoglobinopathies. The purpose of this article is to provide an overview of the two most significant clinical haemoglobinopathies, sickle cell disease and thalassaemia, and to focus on their primary care management.