G6PD (Dublin): chronic non-spherocytic haemolytic anaemia resulting from glucose-6-phosphate dehydrogenase deficiency in an Irish kindred.
نویسندگان
چکیده
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.
منابع مشابه
Glucose-6-phosphate dehydrogenase deficiency: correlation between the genotype, biochemistry and phenotype.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common genetic enzyme defect present in many people from African, Middle Eastern, Mediterranean and Asian countries. Individuals with the enzyme deficiency may remain asymptomatic, develop an acute haemolytic crises to infections or Fava beans, neonatal jaundice or chronic non-spherocytic haemolytic anaemia. Electrophoretic mobility may b...
متن کاملGlucose-6-phosphate dehydrogenase deficiency.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect, being present in more than 400 million people worldwide. The global distribution of this disorder is remarkably similar to that of malaria, lending support to the so-called malaria protection hypothesis. G6PD deficiency is an X-linked, hereditary genetic defect due to mutations in the G6PD gene, which ca...
متن کاملGlucose-6-phosphate dehydrogenase deficiency.
Glucose-6-phosphate dehydrogenase (G6PD) is expressed in all tissues, where it catalyses the first step in the pentose phosphate pathway. G6PD deficiency is prevalent throughout tropical and subtropical regions of the world because of the protection it affords during malaria infection. Although most affected individuals are asymptomatic, there is a risk of neonatal jaundice and acute haemolytic...
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متن کامل[glucose-6-phosphate Dehydrogenase Deficiency].
LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome X localization chromosome Xq localization chromosome Xq28 localization gene, structural-functional anomalies G6PD (G6PD1) glucose-6-phosphate dehydrogenase, gene chr.Xq28 gene analysis-DNA analysis myelo-erythropoietic disorders glucose-6-phosphate dehydrogenase deficiency haemolytic anaemia isolated hematopo...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 17 3 شماره
صفحات -
تاریخ انتشار 1980