caa a22 4500 467986088 CHVBK 20180323112532.0 cr unu---uuuuu 170328e19900701xx s 000 0 eng 10.1007/BF00193201 doi (NATIONALLICENCE)springer-10.1007/BF00193201 Family studies of hereditary hemochromatosis in Denmark and the Faroe Islands [Elektronische Daten] [Nils Milman, Niels Graudal, Lillian Nielsen, Bjørn Mathiassen, Palle Tauris, Birgit Lund, Jørgen Kristensen, Kirsten Fenger] 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. Springer-Verlag, 1990 Milman Nils Department of Pulmonary Medicine Y, Gentofte Hospital, DK-2900, Hellerup, Denmark aut Graudal Niels Department of Medicine P, Bispebjerg Hospital, Copenhagen, Denmark aut Nielsen Lillian Department of Medicine P, University Institute of Medical Genetics, Copenhagen, Denmark aut Mathiassen Bjørn Department of Medicine, Landssjúkrahúsid, Tórshavn, Faroe Islands aut Tauris Palle Department of Infectious Medicine, Marselisborg Hospital, Aarhus, Denmark aut Lund Birgit Department of Medicine, Farsø Hospital, Aarhus, Denmark aut Kristensen Jørgen Department of Medicine II, Aarhus County Hospital, Aarhus, Denmark aut Fenger Kirsten Department of Medicine P, University Institute of Medical Genetics, Copenhagen, Denmark aut Human Genetics Springer-Verlag 85/2(1990-07-01), 228-232 0340-6717 85:2<228 1990 85 439 https://doi.org/10.1007/BF00193201 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00193201 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Milman Nils Department of Pulmonary Medicine Y, Gentofte Hospital, DK-2900, Hellerup, Denmark aut NATIONALLICENCE 700 1- Graudal Niels Department of Medicine P, Bispebjerg Hospital, Copenhagen, Denmark aut NATIONALLICENCE 700 1- Nielsen Lillian Department of Medicine P, University Institute of Medical Genetics, Copenhagen, Denmark aut NATIONALLICENCE 700 1- Mathiassen Bjørn Department of Medicine, Landssjúkrahúsid, Tórshavn, Faroe Islands aut NATIONALLICENCE 700 1- Tauris Palle Department of Infectious Medicine, Marselisborg Hospital, Aarhus, Denmark aut NATIONALLICENCE 700 1- Lund Birgit Department of Medicine, Farsø Hospital, Aarhus, Denmark aut NATIONALLICENCE 700 1- Kristensen Jørgen Department of Medicine II, Aarhus County Hospital, Aarhus, Denmark aut NATIONALLICENCE 700 1- Fenger Kirsten Department of Medicine P, University Institute of Medical Genetics, Copenhagen, Denmark aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/2(1990-07-01), 228-232 0340-6717 85:2<228 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer