Thalassaemia: molecular genetics and pathophysiology
Globin gene organisation, how alpha and beta thalassaemia arise, why chain imbalance causes ineffective erythropoiesis and iron overload, how carriers are identified, and the mechanisms of newer therapies.
Tier 2Medical sciences concept
Written with AI assistance and fact-checked against the sources below. For exam study, not clinical decisions. How notes are made
At a glance
- Thalassaemia is reduced or absent synthesis of one globin chain. The disease comes as much from the excess partner chain as from the deficiency.
- Alpha thalassaemia is mostly deletions of the four alpha genes on chromosome 16. Severity rises with each gene lost.
- Beta thalassaemia is mostly point mutations in HBB on chromosome 11. β0 alleles make no chain; β+ alleles make some.
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Sources
- β-ThalassemiasNEJM (Taher, Musallam and Cappellini, 2021;384:727-43), 2021
- Guidelines for the management of transfusion dependent thalassaemia, 4th editionThalassaemia International Federation, 2021
- Thalassaemia information for patients and health professionalsAU/NZThalassaemia Australia
- A phase 3 trial of luspatercept in patients with transfusion-dependent β-thalassemia (BELIEVE)NEJM (Cappellini et al., 2020;382:1219-31), 2020
- CRISPR-Cas9 gene editing for sickle cell disease and β-thalassemiaNEJM (Frangoul et al., 2021;384:252-60), 2021
- U.S. FDA approves AQVESME (mitapivat) for the treatment of anemia in adults with alpha- or beta-thalassemiaAgios Pharmaceuticals press release, December 2025
- Last updated
- 14 November 2026
What changed
- 14 November 2026 Personal emails, About story and Australian-style copy