Abstract
A reduced red cell life span, with or without anaemia, is the hallmark of many inherited red cell defects. Those due to haemoglobin (Hb) disorders are discussed elsewhere in this volume. The remainder, due either to the inadequate activity of one or other red cell enzyme or to a defect in the red cell cytoskeleton, are discussed in this chapter. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is by far the most important disorder in this group, both because of its high incidence in subjects from the Indian sub-continent and because of its clinical manifestations. This brief review will concentrate on the clinical and laboratory aspects of intrinsic red cell defects, with an emphasis on G6PD deficiency.
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References
Beutler E (2001) Glucose-6-phosphate dehydrogenase deficiency and other red cell enzyme abnormalities. In Beutler E, Lichtman MA, Coller BS, Kipps TJ & Seligsohn U, Williams Hematology 6th edn. New York McGraw Hill.
Beutler E, Blume KG, Kaplan JC, Lohr GW, Ramot B & Valentine WN (1979) International Committee for Standardization in Haematology: Recommended screening test for glucose-6- phosphate dehydrogenase (G6PD) deficiency. British Journal of Haematology 43: 469–477.
Dacie JV (1985) The Haemolytic Anaemias. Volume 1. The Hereditary Haemolytic Anaemias. Part 1. 3rd edn. Edinburgh. Churchill Livingstone.
Damonte G, Guida L, Sdraffa A, Benatti U, Melloni E, Forteleoni G, Meloni T, Carafoli E & De Flora A (1992) Mechanisms of perturbation of erythrocyte calcium homeostasis in favism. Cell Calcium 13: 649–658.
De Flora A, Benatti U, Guida L, Forteleoni G & Meloni T (1985) Favism: disordered erythrocyte calcium homeostasis. Blood 66: 294–297.
Fischer TM, Meloni T, Pescarmona GP & Arese P (1985) Membrane cross bonding in red cells in favic crisis: a missing link in the mechanism of extravascular haemolysis. British Journal of Haematology 59: 159–169.
Gallagher PG & Forget BG (2001a) The red cell membrane. in Beutler E, Lichtman MA, Coller BS, Kipps TJ & Seligsohn U, Williams Hematology. 6th edn. New York. McGraw Hill.
Gallagher PG & Forget BG (2001b) Hereditary spherocytosis, elliptocytosis and related disorders. in Beutler E, Lichtman MA, Coller BS, Kipps TJ & Seligsohn U, Williams Hematology. 6th edn. New York. McGraw Hill.
Kaeda JS, Chottray GP, Ranjit MR, Bautista JM, Reddy PH, Stevens D et al (1995) A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala— Gly), is the major polymorphic variant in tribal populations in India. American Journal of Human Genetics 57: 1335–1341.
Karan AS, Saxena R, Choudhry VP (2002) Autosomal Dominant Hereditary Spherocytosis: Does it occur in India? American Journal Of Hematology 70:266– 67.
King M-J, Behrens J, Rogers C, Flynn C, Greenwood D & Chambers K (2000) Rapid flow cytometric test for the diagnosis of membrane cytoskeleton-associated haemolytic anaemia. British Journal of Haematology 111: 924–933.
Kuruvilla KA, Sukumar ST & Jana AK (1998) Glucose-6-phosphate dehydrogenase deficiency in neonatal hyperbilirubinaemia in a south Indian referral hospital. Indian Pediatrics 35: 52–55.
Luzzatto L (1998) Glucose-6-phosphate dehydrogenase deficiency and hemolytic anemia inNathan DG, Orkin SH. Hematology of Infancy and Childhood. 5th edn. Philadelphia. W B Saunders Company.
Marks PA & Johnson AB (1958) Relationship between the age of human erythrocytes and their osmotic resistance: a basis for separating young and old erythrocytes. Journal of Clinical Investigation 37: 1542-.
Martini G, Toniolo D, Vulliamy TJ, Luzzatto L, Dono R, Viglietto G, Paonessa G, D’Urso M & Persico MG (1986) Structural analysis of the X-linked gene encoding human glucose-6- phosphate dehydrogenase European Molecular Biology Organisation Journal 5: 1849–1855.
Mason PJ (1996) New insights into G6PD deficiency. British Journal of Haematology 94: 585–591.
Mehta A, Mason PJ & Vulliamy (2000) Glucose-6-phosphate dehydrogenase deficiency, Bailliere’s Clinical Haematology 13: 21–38.
Mehta J, Harjia K, Vasani J, Banghar P, Sankla M, Singhal S, Pathore A, Tilve GH, Mehta BC (1992). Hereditary Spherocytosis: experience of 145 cases. Indian J Med Sci 46: 103–114.
Mentzer WC (1998) Pyruvate kinase deficiency and disorders of glycolysis. In Nathan DG & Orkin SH, Hematology of Infancy and Childhood. 5th edn. Philadelphia. WB Saunders Company.
Miraglia del Giudice E, Nobile B, Frances M, D’Urso I, Iolascon A, Ebor S & Perrotta S (2001) Clinical and molecular evaluation of non-dominant hereditary spherocytosis. British Journal of Haematology 112: 42–47.
Naylor CE, Rowland P, Basak AK, Gover S, Mason PJ, Bautista JM, Vulliamy TJ, Luzzatto L & Adams MJ (1996) Glucose-6-phosphate dehydrogenase mutations causing enzyme deficiency in a model of the tertiary structure of the human enzyme Blood 87: 2974–2982.
Persico M, Viglietto G, Martini G, Toniolo G, Paonessa G, Moscatelli C, Dono R, Vulliamy T, Luzzatt L & D’Urso M (1986) Isolation of human glucose-6-phosphate dehydrogenase (G6PD) clones: primary structure of the protein and unusual 5’ non-coding region. Nucleic Acids Research 14: 2511–2522 and 7822.
Rees DC, Duley JA & Marinaki AM (2003) Pyrimidine 5’ nucleotidase deficiency. British Journal of Haematology 120: 375–383.
Roper D, Layton & Lewis SM (2001) Investigation of the hereditary haemolytic anaemias: membrane and enzyme abnormalities. in Lewis SM, Bain BJ & Bates I, Practical Haematology 9th edn. London. Churchill Livingstone.
Sukumar S, Colah R & Mohanty D (2002) G6PD gene mutations in India producing drug-induced haemolytic anaemia. British Journal of Haematology 116: 671–672.
Tsai KJ, Shih LY, Hung IJ, Huang SW, Wei JS Liu TZ & Chiu DT (1996) Enhanced vesiculation exacerbates complement-dependent hemolysis in glucose-6-phosphate dehydrogenase deficient red blood cells. Life Sciences 59: 867–876.
Turrini F, Naitana A, Mannuzzu L, Pescarmona G & Arese P (1985) Increased red cell calcium, decreased calcium adenosine triphosphatase, and altered membrane proteins during fava bean hemolysis in glucose-6-phosphate dehydrogenase-deficient (Mediterranean variant) individuals. Blood 66: 302–305.
Vettore L, Zanella A, Molaro GL et al (1984) A new test for the laboratory diagnosis of spherocytosis. Acta Haematologica 72: 258–263.
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Hinchliffe, R., Vora, A. (2004). Glucose-6-Phosphate Dehydrogenase Deficiency and Other Inherited Red Cell Defects. In: Kumar, D. (eds) Genetic Disorders of the Indian Subcontinent. Springer, Dordrecht. https://doi.org/10.1007/978-1-4020-2231-9_15
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DOI: https://doi.org/10.1007/978-1-4020-2231-9_15
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