title: [Clinical experience with early hemochromatosis].
abstract: During the period 1986-93 22 patients were diagnosed as having primary hemochromatosis. Only 11 of them had elevated aminotransferases. Transferrin saturation was higher > 63% in 17 (77%) and serum-ferritin was higher in all the patients. (257 mumol/l to 6,500 mumol/l). A percutaneous liver biopsy was performed in 20 patients, all of whom showed a characteristic grading from 2 + to 4+ using Perls' stain. Two males had cirrhosis with simultaneous hepatocellular carcinoma, and another two had cirrhosis. One patient had diabetes mellitus type I. We conclude that fasting serum-iron and transferrin should be determined in all subjects over 40 years of age and in patients with chronic elevation of liver enzymes. If transferrin saturation is higher than 50% in females and 60% in males, serum ferritin should be determined. A percutaneous liver biopsy should be performed if both values are higher than normal. Screening of siblings is important because of the autosomal recessive pattern of inheritance.
authors.affiliation: Medisinsk avdeling, Aker sykehus, Oslo.
authors.forename: H
authors.initials: H
authors.lastname: Bell
authors.forename: N
authors.initials: N
authors.lastname: Raknerud
authors.forename: K
authors.initials: K
authors.lastname: Try
authors.forename: B
authors.initials: B
authors.lastname: Rostad
authors.forename: T
authors.initials: T
authors.lastname: Leivestad
mesh_terms: D000328:Adult; D000368:Aged; D003937:Diagnosis, Differential; D005260:Female; D005293:Ferritins / Q000097:blood; D006432:Hemochromatosis / Q000097:blood / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D007501:Iron / Q000097:blood; D008099:Liver / Q000201:enzymology / Q000473:pathology; D008107:Liver Diseases / Q000097:blood / Q000175:diagnosis* / Q000473:pathology; D008297:Male; D008875:Middle Aged
chemical_list: D005293:Ferritins; D007501:Iron
vernacular_title: Klinisk erfaring med tidlig hemokromatose.