G6PD (Dublin): chronic non-spherocytic haemolytic anaemia resulting from glucose-6-phosphate dehydrogenase deficiency in an Irish kindred.
AUTOR(ES)
McCann, S R
RESUMO
A new variant of G6PD associated with chronic non-spherocytic haemolytic anaemia (CNSHA) in an Irish male is described. This variant is unique in that it has a normal electrophoretic mobility, Michaelis constant for G6P and NADP, and a normal pH optimum, together with a marked increase in utilisation of the substrate 2 deoxy glucose-6-phosphate. It is also relatively heat stable when compared with the normal (B) variant. These characteristics distinguish this variant from previously reported variants associated with CNSHA and we have called it G6PD Dublin.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1048545Documentos Relacionados
- Familial Non-spherocytic Haemolytic Anaemia *
- Glucose-6-phosphate Dehydrogenase Deficiency and Malaria: Cytochemical Detection of Heterozygous G6PD Deficiency in Women
- Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency, Thalassaemia, and Abnormal Haemoglobins in Taiwan
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency, abnormal haemoglobins, and thalassaemia in Yugoslavia.
- Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency, Thalassaemia, and Abnormal Haemoglobins in the Philippines