The earliest phenotypic manifestation of idiopathic hereditary hemochromatosis is
Hemochromatosis is a common inherited disorder of iron metabolism in which dysregulation of intestinal iron absorption results in deposition of excessive amounts of iron in parenchymal cells with eventual tissue damage and impaired function in a wide range of organs. When the diagnosis of hemochromatosis is established, it is impoant to counsel and screen other family members.Asymptomatic and symptomatic family members with the disease usually have an increased saturation of transferrin and an increased serum ferritin concentration. These changes occur even before the iron stores are greatly increasedA fasting serum transferrin saturation greater than 50% is abnormal and suggests homozygosity for hemochromatosis.Ref: Harrison's 19/e p2516
Postprandial increase in serum iron concentration
Decreased serum ferritin level
Slate grey pigmentation of skin
Increased transferrin saturation
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