6-phosphogluconate dehydrogenase deficiency in an Italian family

Annals of Hematology

Volumn 80, Issue 1, 2001, Pages 41-44

  Caprari, P ^a   Caforio, M P ^a   Cianciulli, P ^a   Maffi, D ^a   Pasquino, M T ^a   Tarzia, A ^a   Amadori, S ^a   Salvati, A M ^a  

^a ISTITUTO SUPERIORE DI SANITÀ   (Italy)

Author keywords

6 Phosphogluconate dehydrogenase; 6PGD; Erythrocyte enzyme deficiency; Hemolytic anemia; Hyperbilirubinemia

Indexed keywords

BILIRUBIN; ERYTHROCYTE ENZYME; GLUCOSE 6 PHOSPHATE DEHYDROGENASE; GLUTATHIONE; PHOSPHOGLUCONATE DEHYDROGENASE; PYRUVATE KINASE;

ADULT; ANEMIA; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME DEFICIENCY; ENZYME INACTIVATION; ERYTHROCYTE FRAGILITY; ERYTHROCYTE LIFESPAN; FAMILY STUDY; FEMALE; GENETIC DISORDER; GLUCOSE 6 PHOSPHATE DEHYDROGENASE DEFICIENCY; HEMOLYSIS; HUMAN; ITALY; JAUNDICE; OXIDATIVE STRESS; PRIORITY JOURNAL; REGULATORY MECHANISM; RETICULOCYTE COUNT; SYMPTOMATOLOGY;

ANEMIA, HEMOLYTIC; DISEASES IN TWINS; FEMALE; HUMANS; ITALY; MALE; PHOSPHOGLUCONATE DEHYDROGENASE; TWINS, DIZYGOTIC;

EID: 0035131405     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002770000233     Document Type: Article

References (28)

1. Prenatal diagnosis of hemoglobinopathies
2. 2,3-Diphosphoglycerate (2,3-DPG)
3. Reduced glutathione (GSH)
4. The relationship of red cell enzymes to red cell life span
5. International Committee for Standardization in Haematology: Recommended methods for red-cell enzyme analysis
6. 6-Phosphogluconolactonase deficiency, a hereditary erythrocyte enzyme deficiency: Possible interaction with glucose-6-phosphate dehydrogenase deficiency
7. A new inherited enzymatic deficiency of human erythrocytes: 6-phosphogluconate dehydrogenase deficiency
8. Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency revealed by single-strand conformation and sequence analysis
9. The interaction between Gilbert's syndrome and G6PD deficiency influences bilirubin levels
10. Membrane alterations in G6PD- and PK-deficient erythrocytes exposed to oxidizing agents
11. Hereditary variation of erythrocytic 6-phosphogluconate dehydrogenase
12. Hyperbilirubinemia in heterozygous beta-thalassemia is related to co-inherited Gilbert's syndrome
13. Hyperbilirubinemia, glucose-6-phosphate dehydrogenase deficiency and Gilbert's syndrome
14. Bilirubin levels in the acute hemolytic crisis of G6PD deficiency are related to Gilbert's syndrome
15. Gilbert's syndrome and jaundice in glucose-6-phosphate dehydrogenase deficient neonates
16. Gilbert's syndrome and glucose-6-phosphate dehydrogenase deficiency: A dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia
17. Neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient heterozygotes
18. Erythrocyte pyruvate kinase and glucose phosphate isomerase deficiency: Perturbation of glycolysis by structural defects and functional alterations of defective enzymes and its relation to the clinical anemia
19. Anémie hémolytique constitutionelle avec déficit en 6-phosphogluconate dehydrogenase
20. Biochemical and genetic characterization of the Lowell variant. A new phenotype of 6-phosphogluconate dehydrogenase
21. Inherited quantitative variations of human phosphogluconate dehydrogenase
22. Mechanism of red blood cell aging: Relationship of cell density and cell age
23. Human erythrocyte separation according to age on a discontinuous Percoll density gradient
24. The expression of uridine diphosphate glucuronosyltransferase gene is a major determinant of bilirubin level in heterozygous β-thalassemia and in glucose-6-phosphate dehydrogenase deficiency
25. Anémie hémolytique congénitale non sphérocytaire avec déficit incomplet en 6-phosphogluconate déshydrogénase
26. The decline in energetic metabolism with aging of the erythrocyte and its relationship to cell death
27. Congenital 6-phosphogluconate dehydrogenase (6PGD) deficiency associated with chronic hemolytic anemia in a Spanish family
28. Diagnostic value of the glycerol lysis test