Novel gain of function mutation in the SLC40A1 gene associated with hereditary haemochromatosis type 4.


Here we report the case of a 69-year-old Chinese Han woman who presented with liver cirrhosis, diabetes mellitus, skin hyperpigmentation, hyperferritinaemia and high transferrin saturation. Subsequent genetic analyses identified a novel heterozygous mutation (p.Cys326Phe) in the SLC40A1 gene. This is the first report regarding a SLC40A1 mutation in the… (More)
DOI: 10.1111/imj.12764