Article
Combined glucose-6-phosphate dehydrogenase and glucosephosphate isomerase deficiency can alter clinical outcome.
Blood cells, molecules & diseases - 1 Jan 2000
Clarke Julia L, Vulliamy Tom J, Roper David, Mesbah-Namin Seyed A, Wild Barbara J, Walker James I, Will Andrew M, Bolton-Maggs Paula H, Mason Philip J, Layton D Mark
Abstract excerpt
Glucosephosphate isomerase (GPI) deficiency in humans is an autosomal recessive disorder, which results in nonspherocytic hemolytic anemia of variable clinical expression. A 4-year-old female with severe congenital hemolytic anemia had low red cell GPI activity of 15.5 IU/g Hb (50% of normal mean) indicating GPI deficiency. Subsequent DNA sequence analysis revealed a novel homozygous 921C to G mutation in the GPI...
Topics
- Anemia, Hemolytic
- Anemia, Hemolytic, Congenital Nonspherocytic
- Child, Preschool
- DNA Mutational Analysis
- Dosage Compensation, Genetic
- Family Health
- Female
- Glucose-6-Phosphate Isomerase
- Glucosephosphate Dehydrogenase Deficiency
- Homozygote
- Humans
- Mutation, Missense