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

Background 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. Methods 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. Results 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 mutations. The number of iron studies reflectively added to diagnose one patient (NND) was found to be 29.3. Conclusions Reflective addition of iron studies and interpretive comments can assist in the early detection of patients with hereditary haemochromatosis. Better guidance for laboratory staff undertaking reflective testing and for general practitioners facilitating patient follow-up may increase the efficiency of this diagnostic process.

HFE GENE MUTATIONS

Objectives: To determine the frequency of two common HFE Gene Mutations(C282Y & H63D) in an immigrant population (British Pakistanis) in UK. Study Design: Crosssectional study. Setting: University of Lincoln UK. Duration: Duration of study was 12 monthsfrom 01/09/2012 to 31/08/2013. Material and Methods: Two hundred immigrant Pakistani (BP)chromosomes (100 samples; 50 male and 50 female) from major cities of UK and 200 ancestralorigin Pakistani chromosomes (100 samples; 50 male and 50 female) were analysed by PCRRFLPfor the presence of the H63D and C282Y mutations. Results: Eight individuals were foundto be heterozygous for the H63D mutation and one individual was found to be homozygousfor the H63D mutation, therefore, the H63D mutation was observed to have a frequency of 8%in immigrant Pakistani (BP) population sample and similar results were observed in ancestralorigin population from Pakistan. The C282Y mutation was not detected at all. Conclusion: Wefound that our results are close to Saudi-Arabian and Indian population (8.5% & 9.1% H63Dmutation, respectively) and in accordance with the global spread of the H63D mutation.