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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Milman, N., Graudal, N., Nielsen, L.S. et al. Family studies of hereditary hemochromatosis in Denmark and the Faroe Islands. Hum Genet 85, 228–232 (1990). https://doi.org/10.1007/BF00193201
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DOI: https://doi.org/10.1007/BF00193201