Traits

Traits linked to EPB41

erythrocyte membrane protein band 4.1

The Human Phenotype Ontology links 24 traits to EPB41, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Abnormal erythrocyte morphology	Always
Elliptocytosis	Often (30–79%)
Increased red cell osmotic fragility	Often (30–79%)
Congenital hemolytic anemia	Sometimes (5–29%)
Hemolytic anemia	Sometimes (5–29%)
Increased immature red blood cells	Sometimes (5–29%)
Poikilocytosis	Sometimes (5–29%)
Stomatocytosis	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Jaundice	Sometimes (5–29%)
Prolonged yellowing of skin in newborn	Sometimes (5–29%)
Abdominal pain	Rarely (1–4%)
Gallstones	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
High blood bilirubin levels	Sometimes (5–29%)
Neonatal hyperbilirubinemia	Sometimes (5–29%)
Fever	Rarely (1–4%)
Hydrops fetalis	Rarely (1–4%)

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	Sometimes (5–29%)
Fatigue	Sometimes (5–29%)
Chills	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Open skin sore	Sometimes (5–29%)
Paleness	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Frontal bossing	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay as children	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 EPB41 and how often each is seen. Find out more at hpo.jax.org.

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