Abstract

ESTRADA DEL CUETO, Marianela; HERRERA GARCIA, Mayelín; MAYO DE LAS CASAS, Clara  and  PEREZ DIEZ DE LOS RIOS, Graciela. Molecular characterization of Glucose-6-phosphate dehydrogenase (G6PD) variants in the Cuban population . Rev Cubana Hematol Inmunol Hemoter [online]. 2008, vol.24, n.2. ISSN 0864-0289.

G6PD deficiency is the most common erythroenzymopathy in the world. The molecular study of 50 variants of G6PD with diminished enzymatic activity and/or carriers of electrophoretic variants was conducted. Of 38 patients with rapid variants, 33 were G6PD A- 376/202; 3 were G6PD A- 376/968 (class 3) and 2 were rare variants. Seven deficient variants with normal electrophoretic mobility were classified as G6PD Santamaría376/542 (class 2). Of the 4 cases with slow variants, one was carrier of G6PD Sao Borja337 (class 4); other 2 were rare electrophoretic variants with normal activity. In a patient with CNSHA it was not possible to determine the molecular variant (class 1). The most frequent variant in our population was G6PD A- 376/202 that is a marker for the black race. No patient with Mediterranean variety was found. This was the first molecular study of G6PD conducted in Cuba.

Keywords : G6PD mutations; biochemical variants of G6PD; PCR; G6PD.

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