First published in 2025, this patient-centred guideline sets out a framework for describing genetic haemochromatosis and iron overload in the clinical setting, for primary and secondary care settings.
This guideline has been conceived and developed by the genetic haemochromatosis patient community under the auspices of Haemochromatosis UK, with expert clinician support, in response to the discontinuation by NICE of their guideline development process for Genetic Haemochromatosis in Adults (2023).
The guideline sets out :
A framework for describing genetic haemochromatosis and iron overload in the clinical setting
The role of genetic screening as a preventative healthcare approach
Recommendations on population screening
Recommendations on cascade screening
Primary care diagnostic considerations in preventing patient harm from iron overload
A summary of target treatment parameters for secondary care
The guideline is available online, from UK public libraries:
Genetic Haemochromatosis : A Patient-Centred Guideline
First edition January 2025 - 48 pages - ISBN : 978-1-0369-0742-6
The need for a patient-centred care guideline
Care pathways for people affected by genetic haemochromatosis vary widely across the United Kingdom. There is little consensus internationally. A study in 2014 observed that there was “very poor consistency between available guidelines for HH [which] hampers qualitative care and its evaluation” (Vanclooster et al, 2015). Not much has changed.
Our charity previously endorsed earlier guidelines published by BSH in 2018. These are now significantly out-of-date. More recent guidelines published by EASL in 2022 have shortcomings. Appendix C provides a summary of this patient-centred guideline compared to others.
The time has come to put patients at the centre of clinical care, underpinned with robust evidence based medicine across the full range of clinical specialisms, including genetics and public health.