Congenital dyserythropoietic anemia type II associated with G6PD Seattle in a Sicilian child

Acta Haematol. 1995;93(1):36-9. doi: 10.1159/000204087.

Abstract

A 2-year-old Sicilian boy was investigated because of chronic nonspherocytic hemolytic anemia (CNSHA) associated with hepatosplenomegaly. Appropriate studies revealed deficiency of glucose-6-phosphate dehydrogenase type Seattle (G6PD Seattle). In addition, bone marrow morphology, serological studies and analysis of red cell membrane proteins revealed congenital dyserythropoietic anemia (CDA) type II (or HEMPAS). Because G6PD Seattle on its own does not cause CNSHA, we believe that the clinical manifestations in this patient are essentially due to the CDA type II abnormality. However, the coexistence of these two different red cell abnormalities may affect the clinical picture specifically by making CDA type II more hemolytic than it would have been otherwise.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anemia, Dyserythropoietic, Congenital / complications*
  • Anemia, Dyserythropoietic, Congenital / diagnosis
  • Anemia, Hemolytic, Congenital Nonspherocytic / complications*
  • Child, Preschool
  • Diagnosis, Differential
  • Glucosephosphate Dehydrogenase Deficiency / complications*
  • Humans
  • Male