Glucose 6-phosphate dehydrogenase deficiency and red cell membrane defects: Additive or synergistic interaction in producing chronic haemolytic anaemia

F. Alfinito, V. Calabro, M. D. Cappellini, G. Fiorelli, S. Filosa, A. Iolascon, E. M. Del Giudice, S. Perrotta, R. Migliorati, D. Vallone, B. Rotoli, L. Luzzatto

Research output: Contribution to journalArticle

Abstract

We have investigated two unrelated patients with congenital haemolytic anaemia in both of whom we found a combination of hereditary spherocytosis (HS) and glucose-6-phosphate dehydrogenase (G6PD) deficiency. Segregation of the two defects was documented in both families, who had different molecular abnormalities for both HS and G6PD deficiency. In one family the propositus had a reduced level of spectrin and G6PD Seattle (282Asp→His). In the other family the propositus had a band 3 abnormality and was heretozygous for G6PD Mediterranean (188Ser→Phe). From a comparison of clinical and haematological findings in family members with either or both abnormalities we conclude that in one case the two defects exhibited a synergistic effect resulting in a severe chronic haemolytic anaemia; whereas in the other the association was simply additive.

Original languageEnglish
Pages (from-to)148-152
Number of pages5
JournalBritish Journal of Haematology
Volume87
Issue number1
Publication statusPublished - 1994

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Keywords

  • chronic haemolytic anaemia
  • G6PD deficiency
  • G6PD Mediterranean
  • G6PD Seattle
  • hereditary spherocytosis

ASJC Scopus subject areas

  • Hematology

Cite this

Alfinito, F., Calabro, V., Cappellini, M. D., Fiorelli, G., Filosa, S., Iolascon, A., Del Giudice, E. M., Perrotta, S., Migliorati, R., Vallone, D., Rotoli, B., & Luzzatto, L. (1994). Glucose 6-phosphate dehydrogenase deficiency and red cell membrane defects: Additive or synergistic interaction in producing chronic haemolytic anaemia. British Journal of Haematology, 87(1), 148-152.