Metabolic diseases identified from measurement of serum ferritin
Research type
Research Study
Full title
A study of the prevalence of hereditary haemochromatosis and porphyria cutanea tarda in primary care patients identified by hyperferritinaemia.
IRAS ID
156983
Contact name
Julian Barth
Contact email
Sponsor organisation
Leeds Teaching Hospitals NHS Trust
Duration of Study in the UK
0 years, 7 months, 1 days
Research summary
Haemochromatosis and Porphyria Cutanea Tarda (PCT) are both under diagnosed conditions, which can be treated easily with phlebotomy, and benefit from early intervention. Earlier diagnosis can prevent long term organ damage and in Haemochromatosis, give patients a normal lifespan. The research question being addressed is: How many patients does Leeds General Infirmary see where these conditions are a possibility, and is it viable to set up a cascade of tests to pick them up quicker. Further clinical examination to confirm the biochemical diagnosis will be undertaken. This would enable quicker treatment, and the possibility of other family members coming forward for testing.
Samples from Primary Care patients (so as to avoid as much as possible falsely high results due to inflammation) over 18 years of age with Ferritin levels of >500μg/L would be eligible for this study. Samples referred for ferritin assay will be collected from Leeds General Infirmary Core Laboratory for a period of 2 months (expecting approximately 300 samples with raised ferritin all together).
Samples will be anonymised, and analysed for Iron and total iron binding capacity (TIBC)to diagnose Haemochromatosis; by Fluorometry and High Performance Liquid Chromatography (HPLC) to diagnose PCT.
Patients with biochemical results suggestive of haemochromatosis or PCT will be offered a clinic appointment to confirm the diagnosis.REC name
Yorkshire & The Humber - South Yorkshire Research Ethics Committee
REC reference
16/YH/0140
Date of REC Opinion
31 May 2016
REC opinion
Further Information Favourable Opinion