title: Sickle cell disease in a carrier with pyruvate kinase deficiency.
abstract: We report a case of sickle cell disease (SCD) in a patient who is a carrier for the sickle mutation with no additional mutations in the beta globin genes. Sequencing of the PK-LR genes showed that she was also heterozygous for the L272V mutation in exon 7, which is known to cause pyruvate kinase (PK) deficiency. It appeared that sickling in the heterozygous state is related to decreased oxygen affinity associated with PK deficiency in this unusual case.
authors.affiliation: Department of Molecular Medicine and Haematology, Wits University/NHLS, Johannesburg, South Africa.
authors.forename: Nazeer
authors.initials: N
authors.lastname: Alli
authors.forename: Marius
authors.initials: M
authors.lastname: Coetzee
authors.forename: Vernon
authors.initials: V
authors.lastname: Louw
authors.forename: Ben
authors.initials: B
authors.lastname: van Rensburg
authors.forename: Gerrit
authors.initials: G
authors.lastname: Rossouw
authors.forename: Lisa
authors.initials: L
authors.lastname: Thompson
authors.forename: Serge
authors.initials: S
authors.lastname: Pissard
authors.forename: Swee Lay
authors.initials: SL
authors.lastname: Thein
mesh_terms: D000328:Adult; D000755:Anemia, Sickle Cell / Q000201:enzymology*; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D020125:Mutation, Missense; D010100:Oxygen / Q000378:metabolism; D011770:Pyruvate Kinase / Q000172:deficiency / Q000235:genetics*
chemical_list: D011770:Pyruvate Kinase; D010100:Oxygen