Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

G6PD Cagliari: A new low activity glucose 6-phosphate dehydrogenase variant characterized by enhanced intracellular lability

  • 42 Accesses

  • 2 Citations


A new variant of human erythrocyte glucose 6-phosphate dehydrogenase (G6PD), designated G6PD Cagliari, has been characterized. It is associated with severe enzyme deficiency and can be placed in Class 2 of the usual tabulation of G6PD variants. The specific activity of this variant is near normal, while its decay within the circulating erythrocytes is very rapid compared with normals. Genetic analysis of the family of the propositus indicated that the two available females are heterozygotes characterized by extremely unbalanced mosaic phenotypes.

This is a preview of subscription content, log in to check access.


  1. Beutler E, West C, Blume KG (1976) The removal of leukocytes and platelets from whole blood. J Lab Clin Med 88:328–333

  2. Beutler E (1978) Hemolytic anemia in disorders of red cell metabolism. Plenum Medical Book Company, New York

  3. Corash LM, Piomelli S, Chen HC, Ceaman C, Gross E (1974) Separation of erythrocytes according to age on a simplified density gradient. J Lab Clin Med 84:147–151

  4. Damiani G, Frascio M, Benatti U, Morelli A, Zocchi E, Fabbi M, Bargellesi A, Pontremoli S, De Flora A (1980) Monoclonal antibodies to human erythrocyte glucose 6-phosphate dehydrogenase. FEBS Lett 119:169–173

  5. De Flora A, Morelli A, Frascio M, Corte G, Curti B, Galliano M, Gozzer C, Minchiotti C, Mareni C, Gaetani GF (1977) Radioimmunoassay and chemical properties of glucose 6-phosphate dehydrogenase and of a specific NADP(H)-binding protein (FX) from human erythrocytes. Biochim Biophys Acta 500:109–123

  6. De Flora A, Morelli A, Benatti U, Giuntini P, Ferraris AM, Galliano S, Ravazzolo R, Gaetani GF (1981a) G6PD Napoli and Ferrara II: two new glucose 6-phosphate dehydrogenase variants having similar characteristics but different intracellular lability and specific activity. Br J Haematol 48:417–423

  7. De Flora A, Melloni E, Salamino F, Sparatore B, Michetti M, Benatti U, Morelli A, Pontremoli S (1981b) Characterization and possible pathophysiological significance of human erythrocyte proteinases. In: Holzer H (ed) Metabolic Interconversion of Enzymes 1980. Springer, Berlin Heidelberg New York

  8. Fuji H, Miwa S, Tani K, Takegawa S, Fujinami N, Takahashi K, Nakayama S, Konno M, Sato T (1981) Glucose-6-phosphate dehydrogenase variants: A unique variant (G6PD Kobe) showed an extremely increased affinity for glucose-6-phosphate and a new variant (G6PD Sapporo) resembling G6PD Rea Ridge. Hum Genet 58:405–407

  9. Luzzatto L, Testa U (1978) Human erythrocyte glucose 6-phosphate dehydrogenase: Structure and function in normal and mutant subjects. Current Topics in Hematology 1:1–70, Alan R Liss, New York

  10. Luzzatto L, Usanga E, Bienzle U, Esan GFJ, Fasuan FA (1979) Imbalance in X-chromosome expression: Evidence for a human X-linked gene affecting growth of hemopoietic cells. Science 205:1418–1420

  11. Melloni E, Sparatore B, Salamino F, Michetti M, Pontremoli S (1982) Cytosolic calcium-dependent proteinase of human erythrocytes: formation of an enzyme-natural inhibitor complex induced by Ca++ ions. Biochem Biophys Res Commun 106:731–740

  12. Miwa S, Nakajima K, Ono J, Fuji H, Suzuki E (1977) Three glucose-6-phosphate dehydrogenase variants found in Japan. Hum Genet 36:327–334

  13. Miwa S (1982) quoted in Yoshida A, Beutler E (1983) G-6-PD variants: another up-date. Ann Hum Genet 47:25–38

  14. Morelli A, Benatti U, Gaetani GF, De Flora A (1978) Biochemical mechanisms of glucose-6-phosphate dehydrogenase deficiency. Proc Natl Acad Sci USA 75:1979–1983

  15. Morelli A, Benatti U, Salamino F, Sparatore B, Michetti M, Melloni E, Pontremoli S, De Flora A (1979) “In vitro” correction of erythrocyte glucose 6-phosphate dehydrogenase (G6PD) deficiency. Arch Biochem Biophys 197:543–550

  16. Panich V, Sungnate T, Wasi P, Na-Nakorn S (1972) G-6-PD Mahidol. The most common glucose-6-phosphate dehydrogenase variant in Thailand. J Med Assoc Thai 55:576–585

  17. Piomelli S, Corash LM, Davenport DD, Miraglia J, Amorosi EL (1968) “In-vivo” lability of glucose-6-phosphate dehydrogenase in Gd A- and Gd Mediterranean deficiency. J Clin Invest 47: 940–948

  18. Pontremoli S, Salamino F, Sparatore B, Melloni E, Morelli A, Benatti U, De Flora A (1979) Isolation and partial characterization of three acidic proteinases in erythrocyte membranes. Biochem J 181:559–568

  19. Pootrakul P, Panich V (1973) Difference between G6PD B and Mahidol. SE Asian J Trop Med Publ Hlth 4:439

  20. Prchal J, Crist WM, Malluh A, Vitek A, Tauxe WN, Carroll AJ (1980) A new glucose-6-phosphate dehydrogenase deficient variant in a patient with Chediak-Higashi syndrome. Blood 56: 476–480

  21. Sansone G, Rasore Quartino A, Veneziano G (1963) Demonstration on blood smears of a double erythrocytic population in females heterozygous for glucose 6-phosphate dehydrogenase deficiency. Pathologica 55:371–375

  22. Testa U, Meloni T, Lania A, Battistuzzi G, Cutillo S, Luzzatto L (1980) Genetic heterogeneity of glucose 6-phosphate dehydrogenase deficiency in Sardinia. Hum Genet 56:99–105

  23. WHO (1967) Standardization of techniques for the study of glucose 6-phosphate dehydrogenase. WHO Tech Rep Series, Geneva, No 366

  24. Yoshida A, Beutler E (1983) G-6-PD variants: another up-date. Ann Hum Genet 47:25–38

Download references

Author information

Correspondence to A. Morelli.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Morelli, A., Benatti, U., Guida, L. et al. G6PD Cagliari: A new low activity glucose 6-phosphate dehydrogenase variant characterized by enhanced intracellular lability. Hum Genet 66, 62–65 (1984). https://doi.org/10.1007/BF00275188

Download citation


  • Glucose
  • Internal Medicine
  • Genetic Analysis
  • Metabolic Disease
  • Human Erythrocyte