Traits

Traits linked to TFR2

transferrin receptor 2

The Human Phenotype Ontology links 30 traits to TFR2, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Elevated serum ferritin	Always
Elevated transferrin saturation	Always
Decreased circulating hepcidin concentration	Often (30–79%)
Elevated circulating iron concentration	Often (30–79%)
High liver enzymes	Often (30–79%)
Increased iron concentration in liver	Often (30–79%)
Diabetes mellitus	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abdominal pain	Sometimes (5–29%)
Enlarged liver	Sometimes (5–29%)
Hepatic fibrosis	Sometimes (5–29%)
Hepatocellular carcinoma	Sometimes (5–29%)
Scar tissue replaces healthy tissue in the liver	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Blood spots	Not recorded
Decreased blood lymphocyte number	Not recorded
Low blood neutrophil count	Not recorded
Low number of red blood cells or hemoglobin	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Decreased QRS voltage	Sometimes (5–29%)
Disease of the heart muscle	Sometimes (5–29%)
Interruption of electrical communication between upper and lower chambers of heart	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Chronic fatigue	Often (30–79%)
Lack of energy and strength	Sometimes (5–29%)
Fatigue	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal absence of menstruation	Sometimes (5–29%)
Difficulty getting a full erection	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Patchy darkened skin	Often (30–79%)
Progressive hyperpigmentation	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Joint pain/Joint inflammation	Sometimes (5–29%)
Arthritis	Not recorded

Abnormality of limbs

Trait	How often it is seen
Osteoarthritis of the small joints of the hand	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Hypogonadotropic hypogonadism	Sometimes (5–29%)

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.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to TFR2 and how often each is seen. Find out more at hpo.jax.org.

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