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.
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Beutler E, West C, Blume KG (1976) The removal of leukocytes and platelets from whole blood. J Lab Clin Med 88:328–333
Beutler E (1978) Hemolytic anemia in disorders of red cell metabolism. Plenum Medical Book Company, New York
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
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
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
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
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
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
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
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
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
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
Miwa S (1982) quoted in Yoshida A, Beutler E (1983) G-6-PD variants: another up-date. Ann Hum Genet 47:25–38
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
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
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
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
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
Pootrakul P, Panich V (1973) Difference between G6PD B and Mahidol. SE Asian J Trop Med Publ Hlth 4:439
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
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
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
WHO (1967) Standardization of techniques for the study of glucose 6-phosphate dehydrogenase. WHO Tech Rep Series, Geneva, No 366
Yoshida A, Beutler E (1983) G-6-PD variants: another up-date. Ann Hum Genet 47:25–38
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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
- Internal Medicine
- Genetic Analysis
- Metabolic Disease
- Human Erythrocyte