Family studies of hereditary hemochromatosis in Denmark and the Faroe Islands |
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| Authors: | Nils Milman Niels Graudal Lillian Staub Nielsen Bjørn Mathiassen Palle Tauris Birgit Lund Jørgen Schøler Kristensen Kirsten Fenger |
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| Institution: | (1) Department of Pulmonary Medicine Y, Gentofte Hospital, DK-2900 Hellerup, Denmark;(2) Department of Medicine P, Bispebjerg Hospital, Copenhagen, Denmark;(3) Department of Medicine P, University Institute of Medical Genetics, Copenhagen, Denmark;(4) Department of Medicine, Landssjúkrahúsid, Tórshavn, Faroe Islands;(5) Department of Infectious Medicine, Marselisborg Hospital, Aarhus, Denmark;(6) Department of Medicine, Farsø Hospital, Aarhus, Denmark;(7) Department of Medicine II, Aarhus County Hospital, Aarhus, Denmark |
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| Abstract: | Summary Pedigree studies were performed based on one Faroese and four Danish probands with overt idiopathic hemochromatosis (IH). The study consisted of HLA typing and determination of biochemical iron status indicators (serum transferrin saturation, serum ferritin). In total, 130 persons were evaluated. The screening identified 6 homozygous (h/h) subjects with preclinical IH, 46 heterozygous (h/n), and 8 normal (n/n) subjects, while 39 subjects were classified as normal or heterozygous (n/h?). One family demonstrated both a homozygous x heterozygous as well as a heterozygous x heterozygous mating. Recombination between the HLA region and IH locus occurred possibly in three subjects in three different families. The significance of detailed screening in families with probands with IH is discussed. |
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