Screening for hereditary haemochromatosis in patients undergoing knee arthroplasty

E. Krasin*, A. Gold, S. Morgan, Y. Warschawski

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Aims Hereditary haemochromatosis is a genetic disorder that is caused by several known mutations in the human homeostatic iron regulator protein (HFE) gene. Abnormal accumulation of iron causes a joint disease that resembles osteoarthritis (OA), but appears at a relatively younger age and is accompanied by cirrhosis, diabetes, and injury to other organs. Increased serum transferrin saturation and ferritin levels are known markers of haemochromatosis with high positive predictive values. Methods We have retrospectively analyzed the iron studies of a cohort of 2,035 patients undergoing knee joint arthroplasty due to OA. Results No patients had HFE gene C282Y, S65C, or H63D mutations testing. In total, 18 patients (2.96%) of the male cohort and 51 (3.58%) of the female cohort had pathologically increased ferritin levels that may be indicative of haemochromatosis. Seven patients (0.34%) had serum transferrin saturation above 45%.

Original languageEnglish
Pages (from-to)1062-1066
Number of pages5
JournalBone and Joint Open
Issue number12
StatePublished - Dec 2021


  • Ferritin
  • Hereditary haemochromatosis
  • Osteoarthritis
  • Transferrin saturation


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