Humangenetik

, Volume 29, Issue 4, pp 291–297

Glucose phosphate isomerase deficiency with hereditary hemolytic anemia in a Spanish family: Clinical and familial studies

Authors

  • J. L. Vives-Corrons
    • Postgraduate School of Haematology “Farreras Valentí”, Hospital Clínico y ProvincialUniversity of Barcelona
  • C. Rozman
    • Postgraduate School of Haematology “Farreras Valentí”, Hospital Clínico y ProvincialUniversity of Barcelona
  • A. Kahn
    • Centre de Recherches sur les Enzymopathies de l'Association Claude Bernard
    • Unité U-24 de l'INSERMHôpital Beaujon
  • A. Carrera
    • Servicio de Hematología y HemoterapiaResidenia Sanitaria de la Seguridad Social
  • J. Triginer
    • Servicio de Hematología y HemoterapiaResidenia Sanitaria de la Seguridad Social
Original Investigations

DOI: 10.1007/BF00394191

Cite this article as:
Vives-Corrons, J.L., Rozman, C., Kahn, A. et al. Humangenetik (1975) 29: 291. doi:10.1007/BF00394191

Summary

A new case of glucose phosphate isomerase deficiency associated with congenital nonspherocytic hemolytic anemia is described in a 12-year-old girl of Spanish origin. The parents exhibited erythrocyte glucose phosphate isomerase activity between 50 and 60% of normal. The enzyme of the propositus had normal Michaelis-Menten constants both for F-6-P and G-6-P, but abnormal pH optimum and decreased heat stability at 48°C. On starch-gel electrophoresis the father's enzyme was normal but the mother's showed a cathodic migrating band in addition to the normal one. The enzyme from the propositus exhibited only one band with cathodal mobility of 116% of the main band found in normal subjects. It is postulated that the propositus is double heterozygous for two abnormal alleles, and the mother contributes a mutant allele with abnormal electrophoretic mobility and thermolability at 48°C whereas the father contributes an allele without enzymatic activity.

Copyright information

© Springer-Verlag 1975