A familial study in idiopathic hemochromatosis

Fifty-two immediate relatives of six patients suffering from idiopathic hemochromatosis were examined. In eleven subjects with raised serum iron levels three were found to have the fully developed disease while five others showed varying degrees of iron excess on liver biopsy. The present results su...

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Bibliographic Details
Published inThe American journal of medicine Vol. 27; no. 5; pp. 730 - 738
Main Authors Bothwell, T.H., Cohen, I., Abrahams, O.L., Perold, S.M.
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.11.1959
Subjects
Hemochromatosis - genetics
Humans
OldMedline
HEMOCHROMATOSIS/genetics
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ISSN0002-9343
1555-7162
DOI10.1016/0002-9343(59)90189-5

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Summary:Fifty-two immediate relatives of six patients suffering from idiopathic hemochromatosis were examined. In eleven subjects with raised serum iron levels three were found to have the fully developed disease while five others showed varying degrees of iron excess on liver biopsy. The present results support the concept that idiopathic hemochromatosis is a familial disorder in which the absorption of excessive amounts of iron from the gut eventually leads to massive accumulation of iron within the body. The disorder is probably the result of an autosomal genetic defect of incomplete penetrance and/or variable expressivity which is transmitted as a Mendelian dominant. The practical value of familial studies in idiopathic hemochromatosis is stressed since affected persons can in this way be detected and treated in the preclinical phase of the disease.
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ISSN:0002-9343
1555-7162
DOI:10.1016/0002-9343(59)90189-5