Sickle cell disease in a carrier with pyruvate kinase deficiency.
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.
Alli
Nazeer
N
Department of Molecular Medicine and Haematology, Wits University/NHLS, Johannesburg, South Africa.
Coetzee
Marius
M
Louw
Vernon
V
van Rensburg
Ben
B
Rossouw
Gerrit
G
Thompson
Lisa
L
Pissard
Serge
S
Thein
Swee Lay
SL
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*
D011770:Pyruvate Kinase; D010100:Oxygen