Abstract

FONSECA, Dora et al. Defficiency of glucose 6-phosphate dehydrogenase: General aspects of the world's most frequent erithroenzimopathy. Acta Med Colomb [online]. 2005, vol.30, n.2, pp.59-64. ISSN 0120-2448.

Glucose 6 phosphate dehydrogenase (G6PD) deficiency is the most frequent congenital enzymophaty around the world. It is characterized by neonatal jaundice, haemolytic anemia and favism. A diverse variety of drugs and infections can induce haemolytic anaemia in people with this illness. With a standardized biochemical characterization established by the World Health Organization it has been possible to identify more than 400 variants of G6PD around the world. However, only four major variants, A, A-, B and Mediterranean variants, are found in most populations. With molecular biology techniques it is possible to identify mutations and polymorphism in the G6PD gen. The distribution of the G6PD deficiency has been widely investigated around the world and the gene frequency of the most common variant in some ethnics groups is around 0,5. This new knowledge has contributed to increase understanding of this illness and its importance in population genetic studies.

Keywords : glucose-6-phosphate dehydrogenase; diagnosis; enzymology; genetics; epidemiology.

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