Traits

Traits linked to SPTA1

spectrin alpha, erythrocytic 1

The Human Phenotype Ontology links 42 traits to SPTA1, 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
Increased red cell osmotic fragility	Very often (80–99%)
Elliptocytosis	Often (30–79%)
Hypercoagulability	Often (30–79%)
Hypofibrinogenemia	Often (30–79%)
Increased immature red blood cells	Often (30–79%)
Increased mean corpuscular hemoglobin concentration	Often (30–79%)
Low number of red blood cells or hemoglobin	Often (30–79%)
Spherocytosis	Often (30–79%)
Spontaneous hemolytic crises	Often (30–79%)
Congenital hemolytic anemia	Sometimes (5–29%)
Extramedullary hematopoiesis	Sometimes (5–29%)
Hemolytic anemia	Sometimes (5–29%)
Poikilocytosis	Sometimes (5–29%)
Stomatocytosis	Sometimes (5–29%)
Microspherocytosis	Not recorded
Pyropoikilocytosis	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Often (30–79%)
Gallstones	Often (30–79%)
Jaundice	Often (30–79%)
Abdominal pain	Sometimes (5–29%)
Prolonged yellowing of skin in newborn	Sometimes (5–29%)
Abdominal bloating	Rarely (1–4%)

Constitutional symptom

Trait	How often it is seen
Chills	Sometimes (5–29%)
Decreased ability to exercise	Sometimes (5–29%)
Fatigue	Sometimes (5–29%)
Muscle ache	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
High blood bilirubin levels	Often (30–79%)
Fever	Sometimes (5–29%)
Neonatal hyperbilirubinemia	Sometimes (5–29%)
Hydrops fetalis	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Often (30–79%)
Restrictive cardiomyopathy	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Paleness	Often (30–79%)
Open skin sore	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Muscle weakness	Often (30–79%)
Gout	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Growth delay	Rarely (1–4%)
Growth delay as children	Rarely (1–4%)

Abnormality of head or neck

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

Abnormality of the immune system

Trait	How often it is seen
Maculopapular exanthema	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Ataxia	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 SPTA1 and how often each is seen. Find out more at hpo.jax.org.

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