Article
Molecular basis of chronic non-spherocytic haemolytic anaemia: a new G6PD variant (393 Arg----His) with abnormal KmG6P and marked in vivo instability.
British journal of haematology - 1 Jan 1992
Filosa S, Calabrò V, Vallone D, Poggi V, Mason P, Pagnini D, Alfinito F, Rotoli B, Martini G, Luzzatto L
Abstract excerpt
More than 80 genetic variants of glucose-6-phosphate dehydrogenase (G6PD) are associated with chronic non-spherocytic haemolytic anaemia (CNSHA). In order to help clarify the molecular basis of this association, we have carried out a detailed biochemical and genetic characterization of two G6PD d...
Topics
- Adolescent
- Anemia, Hemolytic, Congenital Nonspherocytic
- Chronic Disease
- DNA
- Glucosephosphate Dehydrogenase
- Glucosephosphate Dehydrogenase Deficiency
- Humans
- Male
- Mutation
- Pedigree