Clinical Signs and Symptoms
ORPHA:766 Hemolytic anemia due to red cell pyruvate kinase deficiency
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Anemia HP:0001903
- Chronic hemolytic anemia HP:0004870
- Reduced red cell pyruvate kinase level HP:0025109
- Reticulocytosis HP:0001923
- Splenomegaly HP:0001744
- Unconjugated hyperbilirubinemia HP:0008282
Very frequent
- Congenital hemolytic anemia HP:0004804
- Hydrops fetalis HP:0001789
- Increased circulating ferritin concentration HP:0003281
- Increased serum iron HP:0003452
- Prolonged neonatal jaundice HP:0006579
Frequent
- Abnormal erythrocyte morphology HP:0001877
- Anisocytosis HP:0011273
- Elevated transferrin saturation HP:0012463
- Poikilocytosis HP:0004447
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.