Traits

Traits linked to HFE

homeostatic iron regulator

The Human Phenotype Ontology links 85 traits to HFE, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the digestive system

Trait	How often it is seen
Inability to properly digest food due to lack of pancreatic digestive enzymes	Very often (80–99%)
Malabsorption	Very often (80–99%)
Abdominal pain	Often (30–79%)
Enlarged liver	Often (30–79%)
Abnormality of the liver	Sometimes (5–29%)
Acid reflux	Sometimes (5–29%)
Chronic liver failure	Sometimes (5–29%)
Fat in feces	Sometimes (5–29%)
Hepatocellular carcinoma	Sometimes (5–29%)
Meconium ileus	Sometimes (5–29%)
Rectum protrudes through anus	Sometimes (5–29%)
Scar tissue replaces healthy tissue in the liver	Sometimes (5–29%)
Bile duct cancer	Rarely (1–4%)
Accumulation of fluid in the abdomen	Not recorded

Laboratory abnormality

Trait	How often it is seen
Abnormality of iron homeostasis	Very often (80–99%)
Elevated serum ferritin	Very often (80–99%)
Elevated sweat chloride	Very often (80–99%)
Elevated transferrin saturation	Very often (80–99%)
High blood sugar	Often (30–79%)
Diabetes mellitus	Sometimes (5–29%)
High liver enzymes	Sometimes (5–29%)
Joint swelling	Sometimes (5–29%)
Elevated circulating iron concentration	Not recorded
Fluid around lungs	Not recorded
Glucose intolerance	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Absent vas deferens	Very often (80–99%)
Male infertility	Often (30–79%)
Abnormal absence of menstruation	Sometimes (5–29%)
Abnormal erection	Sometimes (5–29%)
Decreased libido	Sometimes (5–29%)
Infertility	Sometimes (5–29%)
Testicular degeneration	Sometimes (5–29%)
Kidney stone	Rarely (1–4%)
Absent sperm in semen	Not recorded
Difficulty getting a full erection	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Cardiac failure	Sometimes (5–29%)
Disease of the heart muscle	Sometimes (5–29%)
Elevated jugular venous pressure	Sometimes (5–29%)
Enlarged heart	Sometimes (5–29%)
Increased spleen size	Sometimes (5–29%)
Portal hypertension	Sometimes (5–29%)
Abnormal heart rate	Rarely (1–4%)
Spider veins	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Very often (80–99%)
Asthma	Sometimes (5–29%)
Recurrent Aspergillus infection	Sometimes (5–29%)
Recurrent chest infections	Sometimes (5–29%)
Recurrent Haemophilus influenzae infection	Sometimes (5–29%)
Recurrent Staphylococcus aureus infection	Sometimes (5–29%)
Nontuberculous mycobacterial pulmonary infection	Rarely (1–4%)
Recurrent Burkholderia cepacia infection	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Decreased muscle mass	Often (30–79%)
Disease of the joints	Often (30–79%)
Arthritis	Sometimes (5–29%)
Joint stiffness	Sometimes (5–29%)
Muscle weakness	Sometimes (5–29%)
Osteopenia	Sometimes (5–29%)
Osteoporosis	Sometimes (5–29%)
Stiff hinge joints	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Anxiety	Sometimes (5–29%)
Depression	Sometimes (5–29%)
Lethargy	Sometimes (5–29%)
Peripheral neuropathy	Sometimes (5–29%)
Lack of feeling, emotion, interest	Rarely (1–4%)

Abnormality of the respiratory system

Trait	How often it is seen
Obstructive lung disease	Very often (80–99%)
Permanent enlargement of the airways of the lungs	Very often (80–99%)
Reduced forced expiratory volume in one second	Sometimes (5–29%)
Collapsed lung	Rarely (1–4%)
Coughing up blood	Rarely (1–4%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased serum testosterone level	Sometimes (5–29%)
Hypogonadotropic hypogonadism	Sometimes (5–29%)
Underactive thyroid	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Patchy darkened skin	Very often (80–99%)
Bronze skin	Often (30–79%)
Hair loss	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Decreased body mass index	Sometimes (5–29%)
Weight loss	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Sinus disease	Sometimes (5–29%)
Nasal polyposis	Rarely (1–4%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Often (30–79%)
Joint pain	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Abnormality of the knuckle	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Enlarged male breast	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Rarely (1–4%)

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 HFE and how often each is seen. Find out more at hpo.jax.org.

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