Chronic haemolytic anaemia because of pyruvate kinase (PK) deficiency in a child heterozygous for haemoglobin S and no clinical features of sickle cell disease.
Manco
Licínio
L
Vagace
José Manuel
JM
Relvas
Luís
L
Rebelo
Umbelina
U
Bento
Celeste
C
Villegas
Ana
A
Letícia Ribeiro
Maria
M
D000328:Adult; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000097:blood / Q000150:complications / Q000235:genetics*; D002648:Child; D004909:Erythrocyte Indices; D005260:Female; D006451:Hemoglobin, Sickle / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010100:Oxygen / Q000097:blood; D010641:Phenotype; D017354:Point Mutation; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000235:genetics; D015323:Pyruvate Metabolism, Inborn Errors / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D012805:Sickle Cell Trait / Q000097:blood / Q000150:complications / Q000235:genetics*; D055544:beta-Globins / Q000235:genetics
D006451:Hemoglobin, Sickle; D055544:beta-Globins; D011770:Pyruvate Kinase; D010100:Oxygen