- Increased red cell osmotic fragility (HP:0005502). Evidence: PCS. Frequency: 1/1. (PMID:11703334)
- Spherocytosis (HP:0004444): The presence of erythrocytes that are sphere-shaped. Evidence: PCS. Frequency: 5/5. (PMID:6215583;PMID:19538529)
- Hyperbilirubinemia (HP:0002904): An increased amount of bilirubin in the blood. Evidence: PCS. Frequency: 2/2. (PMID:11703334)
- Acanthocytosis (HP:0001927): Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars. Evidence: PCS. Frequency: 3/3. (PMID:6215583)
- Hemolytic anemia (HP:0001878): A type of anemia caused by premature destruction of red blood cells (hemolysis). Evidence: PCS. Frequency: 2/2. (PMID:11703334)
- Reticulocytosis (HP:0001923): An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. Evidence: PCS. Frequency: 12/12. (PMID:11703334;PMID:19538529)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: TAS. Frequency: 2/2. (PMID:11703334)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: 2/2. (PMID:11703334)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:19538529)
These phenotypes are associated with the disease hereditary spherocytosis type 2 (OMIM:616649).