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

Eur J Haematol. 2010 Jan 1;84(1):89-90. doi: 10.1111/j.1600-0609.2009.01353.x. Epub 2009 Sep 16.
No abstract available

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Anemia, Hemolytic, Congenital Nonspherocytic / blood
  • Anemia, Hemolytic, Congenital Nonspherocytic / complications
  • Anemia, Hemolytic, Congenital Nonspherocytic / 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*
  • beta-Globins / genetics

Substances

  • Hemoglobin, Sickle
  • beta-Globins
  • Pyruvate Kinase
  • Oxygen