Hereditary hemochromatosis diagnosis

Given the diagnosis of hereditary hemochromatosis (HH), his two siblings were tested for HFE mutations. Both were heterozygous for the C282Y mutation and showed no evidence of iron overload. 

Bacon BR, Sadiq SA. Hereditary hemochromatosis presentation and diagnosis in the 1990s. Am J Gastroenterol 1997 92 784-89. 

For inborn errors of copper and iron metabolism these flow charts summarize the biochemical procedures for diagnosing Wilson s disease, Menkes disease, the occipital horn syndrome, hereditary hemochromatosis and aceruloplasminemia. However, biochemical diagnosis is only supplemental to the clinical findings, since these are quite unique for the different diseases. 

---