Diagnosis and management of hereditary haemochromatosis

Catherine R. Murphree, Nga N. Nguyen, Vikram Raghunathan, Sven R. Olson, Thomas DeLoughery, Joseph J. Shatzel

Research output: Contribution to journalReview articlepeer-review

21 Scopus citations


Hereditary haemochromatosis, one of the most common genetic disorders in the United States, can produce systemic iron deposition leading to end-organ failure and death if untreated. The diagnosis of this condition can be challenging as elevated serum ferritin may be seen in a variety of conditions, including acute and chronic liver disease, a range of systemic inflammatory states, and both primary and secondary iron overload syndromes. Appropriate and timely diagnosis of haemochromatosis is paramount as simple interventions, such as phlebotomy, can prevent or reverse organ damage from iron overload. The recognition of other aetiologies of elevated ferritin is also vital to ensure that appropriate intervention is provided and phlebotomy only utilized in patients who require it. In this review, we summarize the existing data on the work up and management of hereditary haemochromatosis and present a practical algorithm for the diagnosis and management of this disease.

Original languageEnglish (US)
Pages (from-to)255-262
Number of pages8
JournalVox sanguinis
Issue number4
StatePublished - May 1 2020


  • blood components
  • transfusion medicine
  • transfusion strategy

ASJC Scopus subject areas

  • Hematology


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