Chronic haemolytic anaemia because of pyruvate kinase (PK) deficiency in a child heterozygous for haemoglobin S and no clinical features of sickle cell disease

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Bibliographic Details
Published inEuropean journal of haematology Vol. 84; no. 1; pp. 89 - 90
Main Authors Manco, Licínio, Vagace, José Manuel, Relvas, Luís, Rebelo, Umbelina, Bento, Celeste, Villegas, Ana, Letícia Ribeiro, Maria
Format Journal Article
LanguageEnglish
Published Oxford, UK Blackwell Publishing Ltd 01.01.2010
Subjects
Adult
Anemia, Hemolytic, Congenital Nonspherocytic - blood
Anemia, Hemolytic, Congenital Nonspherocytic - complications
Anemia, Hemolytic, Congenital Nonspherocytic - genetics
beta-Globins - genetics
Child
Erythrocyte Indices
Female
Hemoglobin, Sickle - metabolism
Heterozygote
Humans
Male
Mutation, Missense
Oxygen - blood
Phenotype
Point Mutation
Pyruvate Kinase - deficiency
Pyruvate Kinase - genetics
Pyruvate Metabolism, Inborn Errors - blood
Pyruvate Metabolism, Inborn Errors - enzymology
Pyruvate Metabolism, Inborn Errors - genetics
Sickle Cell Trait - blood
Sickle Cell Trait - complications
Sickle Cell Trait - genetics
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ISSN:0902-4441
1600-0609
DOI:10.1111/j.1600-0609.2009.01353.x