Rare Inherited Anaemias Top 10
- Would a national formal network of clinicians with expertise and /or a national MDT (multidisciplinary team meeting) improve care for patients with rare inherited anaemias?
- Can the diagnostic pathways in rare inherited anaemias be improved to provide faster and more accurate diagnoses in a cost effective manner?
- Could an understanding of the cellular and molecular processes in red blood cell production lead to new treatments?
- Could the need for iron chelation be reduced? Could current approaches and monitoring be improved?
- How do existing drugs for rare inherited anaemias work? Could this understanding lead to new treatments and new ways of delivering treatments?
- How can the fatigue of severe anaemia be managed (apart from blood transfusions)?
- Would a register of all rare inherited anaemia patients in the UK (including data and samples) improve care?
- How is quality of life affected by rare anaemia and its treatment? How could this be improved for patients?
- What factors indicate that a person with a rare inherited anaemia needs a transfusion, and what is the best regime to maintain safety and quality of life?
- How can high quality care be sustained throughout a patient's lifetime (e.g. from child to adult and into old age)?
The following questions were also discussed and put in order of priority at the workshop:
- Are there existing drugs for anaemias (or other conditions) that could be used to treat rare inherited anaemias?
- Could therapies that repair faulty genes cure rare inherited anaemias?
- How can we predict which patients will respond to particular treatments and tailor treatments to the individual?
- What are the psychological impacts of rare anaemias on patients and their families?
- What are the long-term side effects of treatment and how can they be reduced?
- What are the social impacts (on education, work-life and income) of rare inherited anaemia? How can these be improved?
- What are the precise genetic mutations causing different types of rare inherited anaemia and variation between people with the same type of rare inherited anaemia?
- What is the role of next generation sequencing (NGS) in the diagnostic pathway for rare inherited anaemias?
- Would a registry of patients help provide accurate data on the number of people affected by rare inherited anaemias in the UK?
- Are there biomarkers for rare anaemia? Could this be used to develop new treatments?
- What are the risks in pregnancy (for mother and child) for women with rare inherited anaemia?
- What factors determine which patients are best treated by bone marrow transplant?
- Could new technology (e.g. phone apps and wearable trackers) be used to support selfmanagement (e.g. to determine the need of transfusion)?
- Are there non-invasive ways of measuring blood haemoglobin levels that could be accurate enough to be used in clinical practice?
- What is the risk of cancer for people with rare inherited anaemia?