G-6-PD Guadalajara. A new mutant associated with chronic nonspherocytic hemolytic anemia. 1982

G Vaca, and B Ibarra, and F Romero, and N Olivares, and J M Cantú, and E Beutler

This paper describes a new G-6-PD variant designated Guadalajara, which was found in a Mexican boy suffering from chronic hemolytic anemia. The red cell enzyme activity of the subject is about 14%. The mutant enzyme showed rapid electrophoretic mobility, slightly increased affinity for glucose-6-phosphate, slightly decreased affinity for NADP+, moderately elevated utilization of substrate analogues, and normal heat stability, pH curve, and inhibition by NADPH. G-6-PD Guadalajara differs from all previously reported variants and is the first variant associated with chronic hemolysis found in Mexico.

UI MeSH Term Description Entries
D008297 Male Males
D008800 Mexico A country in NORTH AMERICA, bordering the Caribbean Sea and the Gulf of Mexico, between BELIZE and the UNITED STATES, and bordering the North Pacific Ocean, between Guatemala and the UNITED STATES.
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D004912 Erythrocytes Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN. Blood Cells, Red,Blood Corpuscles, Red,Red Blood Cells,Red Blood Corpuscles,Blood Cell, Red,Blood Corpuscle, Red,Erythrocyte,Red Blood Cell,Red Blood Corpuscle
D005954 Glucosephosphate Dehydrogenase Glucose-6-Phosphate Dehydrogenase,Dehydrogenase, Glucose-6-Phosphate,Dehydrogenase, Glucosephosphate,Glucose 6 Phosphate Dehydrogenase
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000745 Anemia, Hemolytic, Congenital Hemolytic anemia due to various intrinsic defects of the erythrocyte. Anemia, Hemolytic, Hereditary,Congenital Hemolytic Anemia,Hemolytic Anemia, Congenital,Hemolytic Anemia, Hereditary,Hereditary Hemolytic Anemia,Anemia, Congenital Hemolytic,Anemia, Hereditary Hemolytic,Anemias, Congenital Hemolytic,Anemias, Hereditary Hemolytic,Congenital Hemolytic Anemias,Hemolytic Anemias, Congenital,Hemolytic Anemias, Hereditary,Hereditary Hemolytic Anemias
D000746 Anemia, Hemolytic, Congenital Nonspherocytic Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in GLUCOSE-6-PHOSPHATE ISOMERASE; PYRUVATE KINASE; and GLUCOSE-6-PHOSPHATE DEHYDROGENASE. Anemia, Congenital Nonspherocytic Hemolytic,Anemia, Hemolytic Congenital, Nonspherocytic,Congenital Nonspherocytic Hemolytic Anemia,Hemolytic Anemia, Congenital Nonspherocytic
D014644 Genetic Variation Genotypic differences observed among individuals in a population. Genetic Diversity,Variation, Genetic,Diversity, Genetic,Diversities, Genetic,Genetic Diversities,Genetic Variations,Variations, Genetic

Related Publications

G Vaca, and B Ibarra, and F Romero, and N Olivares, and J M Cantú, and E Beutler
February 1974, Blood,
G Vaca, and B Ibarra, and F Romero, and N Olivares, and J M Cantú, and E Beutler
February 1970, Pediatrics,
G Vaca, and B Ibarra, and F Romero, and N Olivares, and J M Cantú, and E Beutler
January 1979, [Rinsho ketsueki] The Japanese journal of clinical hematology,
G Vaca, and B Ibarra, and F Romero, and N Olivares, and J M Cantú, and E Beutler
May 1981, [Rinsho ketsueki] The Japanese journal of clinical hematology,
G Vaca, and B Ibarra, and F Romero, and N Olivares, and J M Cantú, and E Beutler
November 1981, Nihon Ketsueki Gakkai zasshi : journal of Japan Haematological Society,
G Vaca, and B Ibarra, and F Romero, and N Olivares, and J M Cantú, and E Beutler
January 1979, American journal of hematology,
G Vaca, and B Ibarra, and F Romero, and N Olivares, and J M Cantú, and E Beutler
January 1970, Archiv fur Kinderheilkunde,
G Vaca, and B Ibarra, and F Romero, and N Olivares, and J M Cantú, and E Beutler
January 1976, Voprosy meditsinskoi khimii,
G Vaca, and B Ibarra, and F Romero, and N Olivares, and J M Cantú, and E Beutler
February 1972, Nihon Ketsueki Gakkai zasshi : journal of Japan Haematological Society,
Copied contents to your clipboard!