Iron overload in an HFE heterozygous carrier: A case report and literature review

Donald Turbiville, Xiaotang Du, Jacob Yo, Bagi R. Jana, Jianli Dong

Research output: Contribution to journalReview articlepeer-review

4 Scopus citations


Hereditary hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism characterized by increased iron absorption and tissue deposition. Three loss-of-function mutations in the hemochromatosis gene (HFE), namely, C282Y (c.845G>A), H63D (c.187C>G), and S65C (c.193A>T), account for the vast majority of HH cases. These mutations cause alterations in HFE membrane expression, structure, and/or activity, leading to dysregulation of iron absorption. It is well established that the phenotypic expression of HFE mutations varies markedly. Herein, we describe a 64-year-old Caucasian woman with a reported history of hemochromatosis. The father of the patient had died of complications due to iron overload. Testing of HFE codon C282Y, H63D, and S65C mutations showed heterozygous C282Y. The patient had significantly elevated transferrin saturation (TS) and serum ferritin (SF) levels. Her liver function test results showed elevated alanine transaminase (ALT) and aspartate aminotransferase (AST) levels. The patient has been treated with regular phlebotomy to prevent the clinical manifestations of hemochromatosis.

Original languageEnglish (US)
Pages (from-to)212-217
Number of pages6
JournalLab Medicine
Issue number2
StatePublished - Apr 8 2019


  • Autosomal recessive
  • HFE
  • Haploinsufficiency
  • Hereditary hemochromatosis
  • Heterozygous mutation
  • Iron overload

ASJC Scopus subject areas

  • General Medicine


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