A short report: reflective testing in the diagnosis of hereditary haemochromatosis: results of a short retrospective study

Annals of Clinical Biochemistry
Katie Malton, Daniel Turnock

Abstract

Reflective addition of iron studies to elevated ferritin results can be a useful first step towards making a diagnosis of haemochromatosis; however, the criteria for doing so are poorly defined and the efficiency of different stages of this process are not well documented. We studied the efficiency of current practice at York Teaching Hospitals NHS Foundation Trust with the aim to identify areas for improvement. Data were gathered from the laboratory database on the number of iron studies and subsequent interpretive comments reflectively added by laboratory staff during an eight-month period. Reflective addition of iron was based on individual practice of the reporter. Standardised interpretive comments were added to suggest HFE genotyping when both the ferritin and transferrin saturation were raised. The number of patients successfully followed up and found to have pathological HFE gene mutations was used to evaluate efficiency. A total of 2651 raised ferritin results were reported during the evaluation period, which resulted in the reflective addition of 381 iron studies and 43 interpretive comments by the duty biochemists. This led to 33 requests for HFE genotyping and the identification of 13 individuals with pathological m...Continue Reading

References

Mar 3, 2004·Journal of Clinical Pathology·J R Paterson, R Paterson
Apr 16, 2010·Annals of Clinical Biochemistry·Rajeev SrivastavaMichael J Murphy
Apr 18, 2018·British Journal of Haematology·Edward J FitzsimonsUNKNOWN British Society for Haematology

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Citations

Jul 22, 2019·Annals of Clinical Biochemistry·Adel Aa IsmailYasmin Ismail
Nov 5, 2019·Annals of Clinical Biochemistry·Gareth C McKeemanDanielle B Freedman
Oct 13, 2020·Annals of Clinical Biochemistry·Wytze P OosterhuisPatrick Mm Bossuyt

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Methods Mentioned

BETA
genotyping

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