Sammanfattning
BACKGROUND : We wanted to examine how many of our patients with elevated serum ferritin had undetected haemochromatosis.
INTERPRETATION : In our opinion, persons with elevated serum ferritin should be offered a control of serum ferritin and transferrin saturation. If both these tests show elevated levels, a gene test for haemochromatosis should be performed. Persons who are homozygote for the haemochromatosis mutation should have a follow up with testing of serum ferritin with some years' intervals in order to secure that venesection is started in due time.
RESULTS : 23 of the 291 persons with elevated serum ferritin also had elevated transferrin saturation (8%). 12 out of 23 (52%) were homozygote for the haemochromatosis mutation C282Y.
MATERIAL AND METHODS : Searches in our patient files showed that 519 persons aged 20-70 had tested positively for elevated serum ferritin over the five-year period 1996-2000. 379 of these (73%) were found suitable for follow up and were offered examination for serum ferritin and transferrin saturation. 291 of these (77%) came in. Patients with elevated transferrin saturation had a gene test for haemochromatosis.