Hemolytic anemia due to red cell pyruvate kinase deficiency

Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(27.2%)		 3674096
 Elevated pyruvate kinase activity in patients with hemolytic anemia due to red cell pyruvate kinase "deficiency".
Beutler E, Forman L, Rios-Larrain E.
Am J Med. 1987;83(5):899-904.
Hemolytic anemia
Anemia, Hemolytic, Congenital Anemia, Hemolytic, Congenital Nonspherocytic Child Erythrocytes Females Homo sapiens Male Pyruvate Kinase
        

Phenotype(s) retrieved from Orphanet

    Total: 15

HPO ID Term Frequency
HP:0001744 Splenomegaly Very frequent (99-80%)
HP:0001903 Anemia Very frequent (99-80%)
HP:0001923 Reticulocytosis Very frequent (99-80%)
HP:0004870 Chronic hemolytic anemia Very frequent (99-80%)
HP:0008282 Unconjugated hyperbilirubinemia Very frequent (99-80%)
HP:0025109 Reduced red cell pyruvate kinase activity Very frequent (99-80%)
HP:0001789 Hydrops fetalis Frequent (79-30%)
HP:0003281 Increased serum ferritin Frequent (79-30%)
HP:0003452 Increased serum iron Frequent (79-30%)
HP:0004804 Congenital hemolytic anemia Frequent (79-30%)
HP:0006579 Prolonged neonatal jaundice Frequent (79-30%)
HP:0001877 Abnormal erythrocyte morphology Occasional (29-5%)
HP:0004447 Poikilocytosis Occasional (29-5%)
HP:0011273 Anisocytosis Occasional (29-5%)
HP:0012463 Elevated transferrin saturation Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
PKLR pyruvate kinase L/R 5313