Glucosephosphate-isomerase type Kaiserslautern. A new variant causing congenital nonspherocytic hemolytic anemia

Blut. 1983 May;46(5):271-7. doi: 10.1007/BF00319867.

Abstract

In a 13-year-old German girl a GPI deficiency was found to be the cause of a chronic nonspherocytic hemolytic anemia with recurrent hemolytic crises. The hemolytic crises usually occurred after a feverish infection. Only once did the patient require blood transfusion during a crisis. Examination of the family indicated that the patient is doubly heterozygous for the deficiency. The investigation of the biochemical properties of the deficient enzyme revealed an altered electrophoretic migration, a pronounced thermolability, an increased affinity for G-6-P and slightly changed pH optima for both substrates. The described properties of the deficient GPI indicate that we are dealing with a new variant designated GPI-Kaiserlautern.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Anemia, Hemolytic, Congenital / enzymology*
  • Anemia, Hemolytic, Congenital Nonspherocytic / enzymology*
  • Female
  • Fructosephosphates / metabolism
  • Genetic Variation
  • Glucose-6-Phosphate Isomerase / genetics*
  • Glucosephosphates / metabolism
  • Heterozygote
  • Humans
  • Kinetics

Substances

  • Fructosephosphates
  • Glucosephosphates
  • Glucose-6-Phosphate Isomerase