Heredity of idiopathic haemochromatosis: a study of 106 families.
More than 80% of the first degree relatives of 106 patients with iron overload - 97 with idiopathic haemochromatosis (I.H.) and nine with haemosiderosis secondary to alcohol induced liver disease (A.H. - were examined. Physical examination and measurement of plasma iron level and UIBC were done in all subjects; relatives who presented with some anomaly were submitted to a desferrioxamine test and, if the latter showed a high urinary iron output, to a liver biopsy. While absent in relatives of A.H. patients, iron overload was present in 78 out of 499 relatives of I.H. patients: 29 major and 49 minor forms. The major forms involved the sibships almost exclusively. The genetic analysis showed much evidence in favour of a recessive or rather intermediate form of inheritance, with heterozygous developing minor forms. However, other modes of transmission, especially polygenic (probably oligogenic), cannot be totally excluded. Data from recent studies showing a strong correlation between I.H. and certain HLA antigens do not conflict with the above conclusions.
D000293:Adolescent; D000328:Adult; D000368:Aged; D001786:Blood Glucose / Q000032:analysis; D003241:Consanguinity; D003676:Deferoxamine / Q000032:analysis; D004200:Diseases in Twins; D005260:Female; D005808:Genes, Recessive; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007501:Iron / Q000097:blood / Q000652:urine; D008297:Male; D008875:Middle Aged; D012107:Research Design; D013223:Statistics as Topic
D001786:Blood Glucose; D007501:Iron; D003676:Deferoxamine