Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Bone marrow smear shows erythroid hyperplasia
Always present (100%)HP:0012132
Decreased haemoglobin concentration
Always present (100%)HP:0020062
Enlarged liver
Always present (100%)HP:0002240
Paleness
Always present (100%)HP:0000980
Reduced haptoglobin level
Always present (100%)HP:0020181
Yellowing of the skin
Always present (100%)HP:0000952
Chronic hemolytic anaemia
Very frequent (80-99%)HP:0004870
Large spleen
Very frequent (80-99%)HP:0001744
Low number of red blood cells or haemoglobin
Very frequent (80-99%)HP:0001903
Reduced erythrocyte pyruvate kinase activity
Very frequent (80-99%)HP:0025109
Reticulocytosis
Very frequent (80-99%)HP:0001923
Unconjugated hyperbilirubinemia
Very frequent (80-99%)HP:0008282
Congenital hemolytic anemia
Frequent (30-79%)HP:0004804
Hydrops fetalis
Frequent (30-79%)HP:0001789
Increased circulating iron concentration
Frequent (30-79%)HP:0003452
Increased serum ferritin level
Frequent (30-79%)HP:0003281
Prolonged neonatal jaundice
Frequent (30-79%)HP:0006579
Abnormality of red blood cells
Occasional (5-29%)HP:0001877
Anisocytosis
Occasional (5-29%)HP:0011273
Elevated transferrin saturation
Occasional (5-29%)HP:0012463
Intrauterine growth retardation, IUGR
Occasional (5-29%)HP:0001511
Nonimmune hydrops fetalis
Occasional (5-29%)HP:0001790
Poikilocytosis
Occasional (5-29%)HP:0004447
Gallbladder inflammation
HP:0001082
Gallstones
HP:0001081
Increased red cell osmotic fragility
HP:0005502
Related Conditions
Quick Facts
- SNOMED CT
- 124331002
- UMLS CUI
- C0340968
- Fully Specified Name
- Deficiency of pyruvate kinase (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 26
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.