Three new variants of glucose-6-phosphate dehydrogenase associated with chronic nonspherocytic hemolytic anemia: G-6-PD Lincoln Park, G-6-PD Arlington Heights, and G-6-PD West Town. 1979

G R Honig, and E Habacon, and L N Vida, and F Matsumoto, and E Beutler

Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency was identified in three children who were evaluated because of chronic nonspherocytic hemolytic anemia. One child is of German extraction, another Puerto Rican, and the third Mexican. In each of the patients the hemolytic process was well compensated, but each had one or more episodes of anemia following exposure to an oxidant drug or with infections. The electrophoretic, functional, and kinetic properties of the mutant enzymes, derived both from the patients' erythrocytes and from cultured fibroblasts, allowed each to be distinguished from G-6-PD variants previously described.

UI MeSH Term Description Entries
D008297 Male Males
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
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
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
D005347 Fibroblasts Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. Fibroblast
D005954 Glucosephosphate Dehydrogenase Glucose-6-Phosphate Dehydrogenase,Dehydrogenase, Glucose-6-Phosphate,Dehydrogenase, Glucosephosphate,Glucose 6 Phosphate Dehydrogenase
D005955 Glucosephosphate Dehydrogenase Deficiency A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia. Deficiency of Glucose-6-Phosphate Dehydrogenase,Deficiency, GPD,Deficiency, Glucosephosphate Dehydrogenase,G6PD Deficiency,GPD Deficiency,Glucose 6 Phosphate Dehydrogenase Deficiency,Glucose-6-Phosphate Dehydrogenase Deficiency,Glucosephosphate Dehydrogenase Deficiencies,Hemolytic Anemia Due to G6PD Deficiency,Deficiencies, G6PD,Deficiencies, GPD,Deficiencies, Glucose-6-Phosphate Dehydrogenase,Deficiencies, Glucosephosphate Dehydrogenase,Deficiency of Glucose 6 Phosphate Dehydrogenase,Deficiency, G6PD,Deficiency, Glucose-6-Phosphate Dehydrogenase,Dehydrogenase Deficiencies, Glucose-6-Phosphate,Dehydrogenase Deficiencies, Glucosephosphate,Dehydrogenase Deficiency, Glucose-6-Phosphate,Dehydrogenase Deficiency, Glucosephosphate,G6PD Deficiencies,GPD Deficiencies,Glucose-6-Phosphate Dehydrogenase Deficiencies
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
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

Related Publications

G R Honig, and E Habacon, and L N Vida, and F Matsumoto, and E Beutler
January 1979, [Rinsho ketsueki] The Japanese journal of clinical hematology,
G R Honig, and E Habacon, and L N Vida, and F Matsumoto, and E Beutler
November 1981, Nihon Ketsueki Gakkai zasshi : journal of Japan Haematological Society,
G R Honig, and E Habacon, and L N Vida, and F Matsumoto, and E Beutler
January 1976, Voprosy meditsinskoi khimii,
G R Honig, and E Habacon, and L N Vida, and F Matsumoto, and E Beutler
January 1982, Human genetics,
G R Honig, and E Habacon, and L N Vida, and F Matsumoto, and E Beutler
February 1974, Blood,
G R Honig, and E Habacon, and L N Vida, and F Matsumoto, and E Beutler
February 2000, Blood,
G R Honig, and E Habacon, and L N Vida, and F Matsumoto, and E Beutler
April 1965, Seminars in hematology,
G R Honig, and E Habacon, and L N Vida, and F Matsumoto, and E Beutler
June 1974, European journal of clinical investigation,
G R Honig, and E Habacon, and L N Vida, and F Matsumoto, and E Beutler
January 1966, Polskie Archiwum Medycyny Wewnetrznej,
G R Honig, and E Habacon, and L N Vida, and F Matsumoto, and E Beutler
January 1982, Vox sanguinis,
Copied contents to your clipboard!