Haemochromatosis screening in 120 patients complaining with persistant fatigue

Aim. – Chronic fatigue is the more frequent symptom identified in the course of hereditary haemochromatosis. A screening for this disorder was carried out in 120 primary care patients consulting for unexplained chronic fatigue.Subjects and methods. – Transferrin saturation and serum ferritin were determined in all patients. If transferrin saturation was ≥ 45% and serum ferritin ≥ 300 μg/l, HFE1 genotyping for mutations C282Y and H63D was completed.Results. – One hundred and twenty patients were recruited, 19–86 years old, including 62 males and 58 females. 45 patients (38%) presented with serum ferritin ≥ 300 μg/l. Thirty two patients (27%) presented with transferrin saturation ≥ 45%. Twenty two patients (18%) presented with these two pathological values. Four C282Y/H63D compound heterozygous, one H63D/H63D homozygous, and eight simplex heterozygous (6 H63D and 2 C282Y) genotypes were found. Patients with serum ferritin ≥ 300 μg/l were predominantly male (89%), older (57 year) and plethoric (BMI: 26.4) corresponding mainly to dysmetabolic hyperferritinemia.Conclusion. – None of these 120 patients consulting for unexplained chronic fatigue was found with hereditary haemochromatosis. Therefore observed prevalence is 0, with upper limit of 95% confidence interval at 2.5%. But the high prevalence (38%) of serum ferritin ≥ 300 μg/l must be emphasized, corresponding usually to dysmetabolic hyperferritinemia. [Copyright &y& Elsevier]