Noemi Roy

I am a Locum Consultant Haematologist at the Oxford University Hospitals NHS Foundation Trust.  My interests are in haemoglobinopathies, rare inherited anaemias (particularly CDA-1) and pre-operative anaemias.  My work in rare inherited anaemias includes the diagnosis of conditions such as Diamond-Blackfan Anaemia, Congenital Dyserythropoietic Anaemias, Sideroblastic Anaemia and the red cell enzyme and membrane disorders.  This is carried out by Next-Generation Sequencing in the Molecular Diagnostic Centre. I am also particularly interested in Congenital Dyserythropoietic Anaemia Type 1 and in understanding how the genetic defect leads to the clinical condition seen in patients. Specifically I seek to understand why there is such variation in the severity of the disease and the response to treatment. 

I am dedicated to using patients' views to guide how we conduct research into these disorders and to this end I am leading a James Lind Alliance priority setting partnership in rare inherited anaemias. Once the process has completed, we will have a list of the top 10 topics that patients and health professionals agree are the priorities for further research. 

My interest in anaemias also extends to the more common problem of iron deficiency.  In collaboration with other researchers, we are studying how levels of hepcidin, the hormone which controls iron absorption, could help guide iron replacement therapy in large groups of patients such as pregnant women, intensive care patients and pre-operative patients. 

Finally, I am committed to greater collaboration across Europe for the care of patients with rare inherited anaemias and work closely on the EuroBloodNet project.