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An analysis of the cost and clinical effectiveness of the laboratory tests for Iron studies including deficiency (Anaemia) and overload (Haemochromatosis): The district general perspective.

Tariq Mahmood, David Gunn, Muhammad Shoaib

Background: Screening for Iron deficiency or overload is done by checking Serum Ferritin, Iron, and Transferrin saturations. Iron deficiency is investigated with endoscopy and serology for coeliac disease and Iron overload (Hereditary Haemochromatosis) by C282Y genetic test. Aims and Objectives: To validate the cost effectiveness of tests recommended for making the diagnosis of Iron deficiency or overload. Methods; All serum samples received in a sample district laboratory of UK for full one year with requested serum Ferritin, Iron level and Transferrin saturation were analysed in retrospect for cost effectiveness. As a second step analysis was made of those who had C282Y genetic test for Iron overload. Results: Total of 28133 samples were sent in one year for Ferritin and found low in 0.8% while high in 16.1%. Serum Iron and Transferrin saturation were checked in 1770 samples. Serum Iron level was found low in 22.9% and high in 2.4%. Transferrin saturation was low in 51% and high in 3.4%. Total 41 patients were tested for C282Y genetics, 43.9% samples had no mutation, 34.1% were heterozygous carriers and 21.9% had a confirmed homozygous mutation. Conclusion: It cost the district with 150,000 populations, £53,394 for laboratory tests. It included 23 carriers or sufferers of hereditary hemochromatosis. Checking Serum Iron and Transferrin were not useful in Iron overload. Serum Ferritin was more useful in screening for Iron overload but less helpful in Iron deficiency. Transferrin saturation was twice more sensitive than Iron level in indicating Iron deficiency in our data.