EP012 - Thalassemia Minor and Mendelian Inheritance

This podcast episode is based on clinical scenarios from the official AMC Handbook of Clinical Assessment published by the Australian Medical Council. All cases are used solely for study and discussion. We provide personal learning insights and clinical interpretations to support AMC candidates in developing their clinical reasoning skills. The AMC Handbook is the intellectual property of the Australian Medical Council. To access the official material, please visit the AMC website.

In this episode, we delve into Beta-Thalassaemia minor, a common inherited blood condition often called 'Mediterranean anaemia'. We discuss the case of a young woman who is a carrier (heterozygous state). While Beta-Thalassaemia minor is typically mild, understanding its recessive inheritance pattern is crucial for family planning. If both parents are carriers, there is a 25% risk with each pregnancy for a child to inherit Beta-Thalassaemia major, a severe condition. We highlight the importance of genetic testing for partners and the role of counselling to navigate potential risks and options for future children.