Article
Clinical and haematological consequences of recurrent G6PD mutations and a single new mutation causing chronic nonspherocytic haemolytic anaemia.
British journal of haematology - 1 Jun 1998
Vulliamy T J, Kaeda J S, Ait-Chafa D, Mangerini R, Roper D, Barbot J, Mehta A B, Athanassiou-Metaxa M, Luzzatto L, Mason P J
Abstract excerpt
We have determined the causative mutation in 12 cases of glucose-6-phosphate dehydrogenase deficiency associated with chronic non-spherocytic haemolytic anaemia. In 11 of them the mutation we found had been previously reported in unrelated individuals. These mutations comprise seven different mis...
Topics
- Adolescent
- Anemia, Hemolytic
- Child
- Child, Preschool
- Chronic Disease
- Gene Deletion
- Glucosephosphate Dehydrogenase
- Glycogen Storage Disease Type I
- Humans
- Infant, Newborn
- Male
- Middle Aged
- Mutation
- Point Mutation