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Hereditary Hyperferritinemia.

Alberto Piperno1,2, Sara Pelucchi3, Raffaella Mariani1

  • 1Centre for Rare Disease-Disorders of Iron Metabolism, Fondazione IRCCS, San Gerardo dei Tintori, European Reference Network-EuroBloodNet, 20900 Monza, Italy.

International Journal of Molecular Sciences
|February 11, 2023
PubMed
Summary
This summary is machine-generated.

Serum ferritin levels are key for assessing iron stores but can be elevated by various conditions. This review clarifies inherited and acquired hyperferritinemia, aiding diagnosis.

Keywords:
ferritinhereditaryhyperferritinemiairon

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Area of Science:

  • Biochemistry
  • Hematology
  • Genetics

Background:

  • Ferritin, a ubiquitous cytosolic protein, binds, oxidizes, and stores iron intracellularly.
  • Serum ferritin, present in low amounts, is a routine test for iron storage assessment.
  • Elevated serum ferritin (hyperferritinemia) can result from numerous factors, complicating interpretation.

Purpose of the Study:

  • To review inherited and acquired forms of hyperferritinemia.
  • To provide a diagnostic strategy for differentiating causes of elevated serum ferritin.
  • To focus on inherited hyperferritinemia with normal transferrin saturation.

Main Methods:

  • Literature review of ferritin biology and clinical significance.
  • Analysis of diagnostic approaches for hyperferritinemia.
  • Categorization of inherited versus acquired hyperferritinemia.

Main Results:

  • Hyperferritinemia is common, linked to diverse genetic and acquired conditions.
  • Factors like inflammation, infection, and malignancy affect serum ferritin levels.
  • Distinguishing inherited forms (with/without iron overload) from acquired ones is crucial.

Conclusions:

  • Understanding ferritin's complex regulation is essential for interpreting serum levels.
  • A systematic diagnostic approach is necessary for hyperferritinemia.
  • This review aids in identifying inherited hyperferritinemia, particularly with normal transferrin saturation.