Traits

Traits linked to PKLR

pyruvate kinase L/R

The Human Phenotype Ontology links 28 traits to PKLR, 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
Chronic hemolytic anemia	Always
Decreased hemoglobin concentration	Always
Erythroid hyperplasia	Always
Increased immature red blood cells	Always
Reduced red cell pyruvate kinase level	Always
Low number of red blood cells or hemoglobin	Very often (80–99%)
Congenital hemolytic anemia	Often (30–79%)
Abnormal erythrocyte morphology	Sometimes (5–29%)
Poikilocytosis	Sometimes (5–29%)
Unequal size of red blood cells	Sometimes (5–29%)
Increased red blood cells	Not recorded
Increased red cell osmotic fragility	Not recorded
Reduced erythrocyte 2,3-diphosphoglycerate concentration	Not recorded

Laboratory abnormality

Trait	How often it is seen
Decreased circulating haptoglobin concentration	Always
Unconjugated hyperbilirubinemia	Very often (80–99%)
Elevated circulating iron concentration	Often (30–79%)
Elevated serum ferritin	Often (30–79%)
Hydrops fetalis	Often (30–79%)
Elevated transferrin saturation	Sometimes (5–29%)
Nonimmune hydrops fetalis	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Always
Jaundice	Always
Prolonged yellowing of skin in newborn	Often (30–79%)
Gallbladder inflammation	Not recorded
Gallstones	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Always

Abnormality of the integument

Trait	How often it is seen
Paleness	Always

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	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 PKLR and how often each is seen. Find out more at hpo.jax.org.

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