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

• Published in: Blut Vol. 46; no. 5; pp. 271 - 277
• Main Authors: Arnold, H, Hasslinger, K, Witt, I
• Format: Journal Article
• Language: English
• Published: Germany 01-05-1983
• Subjects: 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
• ISSN: 0006-5242; 1432-0584
• DOI: 10.1007/BF00319867

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.