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Anaemia is a common complication of chronic kidney disease. Of the various contributory factors, the most important is an inappropriately low circulating concentration of erythropoietin, a hormone largely produced by the peritubular cells of the kidney. Chronic anaemia causes debilitating symptoms, particularly if severe, including tiredness and lethargy, muscle fatigue, reduced exercise capacity...
The discovery of the principal gene associated with hereditary haemochromatosis (HFE) in 1996 led to the complete revision of our understanding of this condition. The impact of homozygosity for the C282Y mutation, accounting for the majority of cases, cannot be underestimated. Early accurate diagnosis is now possible and the disease entirely preventable through phlebotomy. Liver biopsy is mainly reserved...
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