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A 55-year-old woman presented to our hepatology outpatient clinic with symptoms of anaemia. Her medical history included hereditary haemochromatosis type 1, psoriatic arthropathy and bilateral cataracts since early adulthood. There was a family history of early-onset cataracts. Haemochromatosis was treated by frequent phlebotomies (2–4 per month) since diagnosis 2.5 years earlier, limited by several episodes of severe symptomatic anaemia (minimal haemoglobin: 7.0 g/dL). Despite anaemia, she presented with constantly high levels of ferritin (>1000 ng/mL) throughout the period of phlebotomies so that she was referred to our clinic for further diagnostics and therapy. At presentation, physical examination showed signs of anaemia but no signs of liver cirrhosis. The levels for γ-glutamyltransferase, alanine transaminase, bilirubin, international normalised ratio (INR) and thrombocytes were within the normal …
Contributors K-HP: management of the case, conception and drafting of the manuscript; MN: ophthalmologic examinations and documentations, conception ophthalmologic part of the manuscript; AB: management of family screening, revision of article; TK: ophthalmologic supervision, revision of the manuscript; MUM: genetic testing for HHCS, conception and revision of the manuscript; SZ: revision of the article; CS: supervisor for the management of the case, conception and revision of the manuscript.
Competing interests None.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.