The Molecular Basis of Glucose 6-Phosphate Dehydrogenase Deficiency. From the Laboratory to the Clinic

      Аннотация: Glucose 6-Phosphate Dehydrogenase Deficiency is the most common enzymopathy and is of public health significance. The Glucose 6-Phosphate Dehydrogenase gene was sequenced and a new variant attributed to a point mutation was identified in an area of the gene conserved between various species. This was designated G6PD Telti. The molecular basis of Glucose 6-Phosphate Deficiency was elucidated through this novel variant. The clinical characteristics and laboratory features of Glucose 6-Phosphate Dehydrogenase Deficiency were also related to the molecular findings. The molecular techniques and the comprehensive approach to this subject should be of interest to medical students, haematologists, laboratory scientists and molecular biologists.

Ключевые слова: dehydrogenase, Glucose, 6-Phosphate, Haemonytic, Anaemias, Favism