Traits

Traits linked to KLF1

KLF transcription factor 1

The Human Phenotype Ontology links 62 traits to KLF1, by body system: features seen in people with one of the gene's rare conditions.

KLF1

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Anisopoikilocytosis	Always
Blood cancer	Always
Circulating nucleated red blood cells	Always
Decreased hemoglobin concentration	Always
Decreased mean corpuscular hemoglobin concentration	Always
Decreased mean corpuscular volume	Always
Erythroid dysplasia	Always
Erythroid hyperplasia	Always
Hemoglobin Barts	Always
Hemolytic anemia	Always
Hypochromia	Always
Increased immature red blood cells	Always
Increased RBC distribution width	Always
Low number of red blood cells or hemoglobin	Always
Persistence of hemoglobin F	Always
Poikilocytosis	Always
Polychromasia	Always
Reduced hematocrit	Always
Reduced red cell pyruvate kinase level	Always
Schistocytosis	Always
Unequal size of red blood cells	Always
HbS hemoglobin	Often (30–79%)
Target cells	Often (30–79%)
Hypochromic microcytic anemia	Sometimes (5–29%)
Increased red cell sickling tendency	Sometimes (5–29%)
Anemia of inadequate production	Not recorded

Laboratory abnormality

Trait	How often it is seen
Conjugated hyperbilirubinemia	Always
Decreased circulating haptoglobin concentration	Always
High bili total	Always
Increased circulating lactate dehydrogenase concentration	Always
Unconjugated hyperbilirubinemia	Always
Elevated circulating alanine aminotransferase concentration	Very often (80–99%)
Elevated circulating aspartate aminotransferase concentration	Often (30–79%)
High blood bilirubin levels	Often (30–79%)
Hydrops fetalis	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged liver and spleen	Always
Hypersplenism	Always
Increased spleen size	Always
Enlarged and thickened heart muscle	Often (30–79%)
Absent spleen	Sometimes (5–29%)
Splenic infarction	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Acute pancreatic inflammation	Always
Enlarged liver	Always
Gallstones	Always
Prolonged yellowing of skin in newborn	Very often (80–99%)
Abdominal pain	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Always
Malaise	Always
Joint pain	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Frontal bossing	Always
Wider-than-typical soft spot of skull	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Elevated circulating erythropoietin concentration	Always
Underactive thyroid	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Hypospadias	Always
Short penis	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Short stature	Always
Weight loss	Always

Abnormality of the eye

Trait	How often it is seen
Noninflammatory retina disease	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Severe infection	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Paleness	Very often (80–99%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal bone structure	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Lung infiltrates	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 KLF1 and how often each is seen. Find out more at hpo.jax.org.

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