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Trait

Elevated transferrin saturation

An above normal level of saturation of serum transferrin with iron.

HPO HP:0012463

Summary

Body system
Laboratory abnormality

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

11 genes linked to Elevated transferrin saturation

Changes in these genes cause rare conditions in which Elevated transferrin saturation is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
FTH1ferritin heavy chain 1AlwaysIn 1 condition
HAMPhepcidin antimicrobial peptideAlwaysIn 2 conditions
PIGAphosphatidylinositol glycan anchor biosynthesis class AAlwaysIn 1 condition
SLC25A38solute carrier family 25 member 38AlwaysIn 1 condition
STEAP3STEAP3 metalloreductaseAlwaysIn 1 condition
TFR2transferrin receptor 2AlwaysIn 2 conditions
BMP6bone morphogenetic protein 6Very often (80–99%)In 2 conditions
HFEhomeostatic iron regulatorVery often (80–99%)In 1 condition
HJVhemojuvelin BMP co-receptorVery often (80–99%)In 1 condition
PKLRpyruvate kinase L/RSometimes (5–29%)In 1 condition
SLC40A1solute carrier family 40 member 1Sometimes (5–29%)In 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Abnormal transferrin saturation

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

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