Rare Inherited Anaemias
About this PSP
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 worked 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 lead 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."
The Rare Inherited Anaemias PSP published its Top 10 in June 2018.
Key documents
Top 10 Priorities
- 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?