Phenotypes associated with the disease pyropoikilocytosis, hereditary (OMIM:266140):
- Elliptocytosis (HP:0004445): The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear. Evidence: IEA. (OMIM:266140)
- Hemolytic anemia (HP:0001878): A type of anemia caused by premature destruction of red blood cells (hemolysis). Evidence: IEA. (OMIM:266140)
- Pyropoikilocytosis (HP:0004839): A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn. Evidence: TAS. (OMIM:266140)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:266140)
- Microspherocytosis (HP:0004835): The presence of erythrocytes that are sphere-shaped and reduced in size. Evidence: IEA. (OMIM:266140)