Thalassaemia is an inherited disorder of haemoglobin production caused by genetic mutations that reduce the production of normal haemoglobin chains. While many individuals with thalassaemia trait are clinically well, accurate diagnosis is essential because of the potential implications for future pregnancies and the risk of severe disease in offspring.
This course reviews the structure and genetics of haemoglobin production, including the alpha- and beta-globin gene clusters and how mutations lead to different forms of thalassaemia. You will explore the clinical spectrum of disease, from silent carrier states to severe conditions such as HbH disease and hydrops fetalis.
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Understand the genetics behind alpha and beta thalassaemia
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Know when haemoglobin electrophoresis is essential for diagnosis
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Recognise key laboratory patterns that suggest thalassaemia
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Identify when DNA testing is required for alpha thalassaemia
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Differentiate thalassaemia from iron deficiency anaemia
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Understand the implications of thalassaemia for pregnancy and family planning
