Dr Bomford is clinically trained, with a special interest in hepatology. He is based on the Denmark Hill Campus in the Institute of Liver Studies, King’s College Hospital and collaborates with colleagues in the Nutritional Sciences Division, of which he is a member, and the Pharmacy Department in the Franklin-Wilkins Building, Waterloo Campus. He is Director of the Trace Metals section of the Supra-regional Assay Service based at King’s College Hospital, this represents a network of providers of a specialist service to monitor trace metals in human serum and tissues. His clinical speciality is the genetics of iron overload disease and he provides clinical care for the cohort of patients with hereditary haemochromatosis that attend the Institute.
A current major interest of the Iron Metabolism interdisciplinary Research Group is to define the function and role in iron metabolism of the recently described peptide hormone hepcidin. Results so far place hepcidin at the centre of iron metabolism, linking cellular iron export rates to the level of iron stores and inflammation, thereby regulating plasma and cellular iron levels of this essential metal. The level of circulating hepcidin is believed to be determined by the rate of synthesis in liver, a process regulated by signals conveying information about iron stores and utilisation, the peptide then being excreted by the kidney, with urine levels reflecting the rate of synthesis and plasma levels. At the heart of such a project is the requirement to accurately and reliably quantify hepcidin levels in biological material. So far there has only been one semi-quantitative assay described, this based on Western analysis.
We have developed an assay based on mass spectrometry internally standardised with heavy stable isotope-labelled hepcidin. So far this assay shows that control individuals have demonstrate a wide range of urinary concentrations of hepicidin. Inadequate hepcidin production can explain the majority of genetic iron overload disease and our results thus far confirm that patients with hereditary haemochromatosis do indeed have very low undetectable levels of urinary hepcidin. Intriguingly however, patients with the C282Y mutation who do not express iron overload also have undetectable levels of hepcidin suggesting that there must be other signals in addition to hepcidin that operate under normal conditions to regulate iron absorption.
Clinical consequences of iron overload and haemochromatosis.
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):