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To coincide with Rare Disease Day, Dr Duantida Songdej (a consultant haematologist in Thailand) and her DPhil co-supervisor Dr Chris Babbs write about their work creating a registry of survivors of this rare form of anaemia.

Rare disease day blood test wellcome

Image courtesy of Wellcome

Thalassemia is an inherited blood disorder that results in the production of abnormal red blood cells, resulting in the inefficient transport of oxygen around the body. In severe cases, babies carrying the genetic changes that cause the disease rarely survive to birth and the health of the mother is also affected. However, recent improvements in medical care mean that now, babies with this rare form of severe anaemia can survive and this presents a need for sharing resources and expertise between doctors throughout the world to ensure these patients are properly cared for throughout life. 

Read more (The WIMM blog website)