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Screening for genetic haemochromatosis in blood samples with raised alanine aminotransferase
  1. Department of Biochemistry and Haematology
  2. Dumfries and Galloway Royal Infirmary
  3. Dumfries DG1 4AP, UK
  1. Department of Clinical Haematology
  2. Wigan and Leigh NHS Trust
  3. Royal Albert Edward Infirmary
  4. Wigan Lane, Wigan WN1 2NN, UK
  1. M Bhavnani,manju.bhavnani{at}

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Editor,—Bhavnani et al(Gut 2000;46:707–10) claim to have identified 12 patients homozygous for C282Y or with compound heterozygocity at a cost of only £117 per patient identified. This astonishingly low total of £1400 allowed them to:

  • Select out of 35 065 blood samples 4.2% (1490) with an elevated alanine aminotransferase.

  • Undertake measurement of 1490 serum irons, transferrins, and ferritin concentrations.

  • Give information on haemochromatosis and offer genetic screening to the 56 patients found to have a transferrin saturation >60%, and to re-contact those not responding.

  • Obtain informed consent from the 33 patients who did respond, and undertake genetic testing for HFE mutations.

  • Offer appropriate management to the 12 patients with C282Y homozygocity or compound heterozygocity.

We have some difficulty in accepting that all this can be achieved for only £1400, and would be intrigued to know how the authors arrived at their costings.


Editor,—Our preliminary study set out to examine the clinical usefulness of screening a targeted population for genetic haemochromatosis. The costing given in our paper was as stated, based solely on laboratory costs, a summary of which is given below. Costs of the clinician, nursing, and clerical time were not included in the paper, and are detailed below.

Laboratory costs:

  • Screening for blood samples with elevated ALT incurred no additional costs as these samples were processed routinely as part of the normal hospital and GP biochemistry requests.

  • The marginal costs for the measurement of 1490 serum irons and transferrins, £1085; 33 serum ferritins, £51; and genetic testing: £264 (total £1400).

  • Although serum ferritins were performed on all 1490 specimens as part of the study, at a cost of £1788, we felt that they did not help in the screening process.

Thus we advocated “In those patients found to have a raised ALT, the cost of screening with iron saturation and follow up when appropriate with ferritin and gene testing would be £1400”.

Other costs:

We were awarded a research grant of £5000 from the Health Authority, and the rest of the money was used for employing a medical laboratory assistant, (8 h/week) who picked out the relevant specimens and batched them for future testing. Information on haemochromatosis, plus offering genetic screening to the 56 patients found to have a transferrin saturation >60 % and recontacting the non-responders was done by means of a standard letter to the clinicians who had requested the original liver fuction tests. Consent for genetic testing was obtained by these clinicians. Management of the 12 patients (homozygotes and compound heterozygotes) was undertaken (with no extra funding) by one of the authors (MB) as part of the routine Clinical Haematology service.

Since then, the Health Authority has awarded us continuing revenue for this targeted screening, and included in these monies are the clinical, clerical, and nursing costs incurred in providing this service as a routine for patients in our District.