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• W1538863294 abstract "Iron stores and iron absorption were determined in the families of three patients with idiopathic hemochromatosis. Iron stores were adequately evaluated by phlebotomy and/or histologic means in twenty-seven family members. Thirteen had moderately to markedly increased stores. Hepatic cirrhosis was present only in those with markedly increased iron stores, and was found in five. Iron absorption was measured in twenty-two of the twenty-seven subjects. It was normal in all those with iron overload, but increased in four of ten family members with normal iron stores. These four were all young men who showed no clinical or laboratory evidence of disease except for diabetes mellitus in one. Increased absorption was found in an additional subject who had either normal or slightly decreased iron stores. Evidence of a disorder of iron metabolism was found in three generations in two families and in two generations in the remaining family. In two families the first and second generations contained members with excess iron stores, and the third generation held a subject who absorbed excess iron in the face of normal stores. In the third family iron overload occurred only in members of the second generation, but two subjects in the third generation had increased iron absorption and normal iron stores. Criteria for the separation of idiopathic hemochromatosis from other diseases of iron overload were discussed. Its familial nature was emphasized as an aid in differential diagnosis. Of the various procedures for assaying iron stores, liver biopsy was considered to be the best compromise between practicality and accuracy. Evidence was presented suggesting that histologic grading of hepatic iron stores in these family members correlated reasonably well with measurement of stores by phlebotomy. The total iron-binding capacity and especially the serum iron were shown to be of value in predicting iron stores and were suggested as screening tests for iron excess. The data presented are interpreted as indicating that idiopathic hemochromatosis is an inherited iron storage disease of which the first recognizable abnormality is increased iron absorption. When absorption exceeds loss, iron stores accumulate, and after some years may become massive. As stores increase, absorption decreases. By the time iron stores are increased markedly, clinical manifestations of the disease may develop." @default.
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• W1538863294 date "1966-06-01" @default.
• W1538863294 modified "2023-10-18" @default.
• W1538863294 title "Idiopathic hemochromatosis" @default.
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• W1538863294 doi "https://doi.org/10.1016/0002-9343(66)90201-4" @default.
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