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thalassemia
Thalassemia
Thalassaemias are haemoglobinopathies from α- or β-globin chain imbalance; β-thalassaemia major requires lifelong transfusion; ineffective erythropoiesis → iron overload despite anaemia; betibeglogene autotemcel (Zynteglo) and CRISPR-based Casgevy are approved gene therapies.
Entry Metadata
| Field | Value |
|---|---|
| ID | thalassemia |
| Name | Thalassemia |
| Status | draft |
| Last reviewed | 2026-06-08 |
| Atlas | 01-human |
| Scale | 07-system |
Cross-Atlas Connections
Sources
- Weatherall DJ. The inherited diseases of hemoglobin are an emerging global health burden. Blood. 2010;115(22):4331-4336. · PubMed 20233970
- Cappellini MD, Cohen A, Porter J, et al. (eds). Guidelines for the Management of Transfusion Dependent Thalassaemia (TDT). 3rd ed. Thalassaemia International Federation; 2014.
- Thompson AA, Walters MC, Kwiatkowski J, et al. Gene therapy in patients with transfusion-dependent β-thalassemia. N Engl J Med. 2018;378(16):1479-1493. · PubMed 29669226