Glucose-6-phosphate dehydrogenase Guadalajara--a case of chronic non-spherocytic haemolytic anaemia responding to splenectomy and the role of splenectomy in this disorder

Hematology. 2004 Aug;9(4):307-9. doi: 10.1080/10245330410001714211.

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme of the pentose phosphate shunt pathway a major function of which is to prevent cellular oxidative damage. Deficiency in red blood cells is associated with a number of varied clinical manifestations. Chronic non-spherocytic haemolytic anaemia is uncommon but is usually characterized by chronic haemolysis, often with severe anaemia. In the past splenectomy in this condition has been thought to be of questionable benefit. We report a case of G6PD Guadalajara where splenectomy produced transfusion independence and have reviewed the literature. Those cases with exon 10 mutations often have a severe clinical phenotype, which responds to splenectomy. This procedure should be considered in this condition.

MeSH terms

  • Anemia, Hemolytic, Congenital Nonspherocytic / genetics*
  • Anemia, Hemolytic, Congenital Nonspherocytic / metabolism
  • Anemia, Hemolytic, Congenital Nonspherocytic / pathology
  • Anemia, Hemolytic, Congenital Nonspherocytic / therapy*
  • Blood Transfusion
  • Child, Preschool
  • Chronic Disease / therapy
  • DNA Mutational Analysis
  • Erythrocytes / metabolism
  • Exons / genetics
  • Glucosephosphate Dehydrogenase / genetics*
  • Glucosephosphate Dehydrogenase / metabolism
  • Hemolysis / genetics
  • Humans
  • Male
  • Pentose Phosphate Pathway / genetics
  • Splenectomy*
  • Splenomegaly / pathology

Substances

  • Glucosephosphate Dehydrogenase