Abstract

Hereditary haemochromatosis is the most common genetic disorder in the Caucasian population, with an estimated prevalence of 1/200-1/400 (homozygous) and 1/8-1/10 in carriers (heterozygous). The transmission is recessive and linked to HLA. The clinical expression of disease appears only in homozygous and will depend on the time of diagnosis and the degree of organ involvement.The clinical case presented below describes the process of differential diagnosis made in a young patient with unilateral coxarthrosis and clinical suspicion of hemochromatosis.Early diagnosis of hereditary hemochromatosis in primary care can reduce morbidity and mortality of this disease by detecting homozygous at younger ages.

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