Rare Inherited Anaemias
There are very few treatments available for rare inherited anaemias. In some cases there is no treatment at all. Sometimes all that is available is blood transfusions. Because these conditions are very rare, there is very little research being done about them.
The specific anaemias that this PSP is working with are:
Diamond-Blackfan Anaemia, Congenital Dyserythropoietic Anaemia, Congenital Sideroblastic Anaemia, Red Cell Membrane Disorders, Red Cell Enzyme Disorders, Transfusion-Dependent Unexplained Inherited Anaemias.
Dr Noémi Roy, the clinical research fellow who leads the PSP, said:
"This has changed how I practice medicine. It has changed my understanding of what it means to listen to patients. It has changed the language I use when I speak with them. Most importantly it has changed my vision of how to deliver the care we give them. It has made it our vision."
This PSP opened its survey in October 2016 to find out what questions around the diagnosis, treatment and management of rare inherited anaemias future research needs to answer.