Hereditary stomatocytosis and cation leaky red cells — Recent developments

Blood Cells, Molecules, and Diseases - Tập 42 - Trang 216-222 - 2009
Lesley J. Bruce1
1Bristol Institute for Transfusion Sciences, N.H.S. Blood and Transplant, North Bristol Park, Filton, Bristol, BS34 7QH, UK

Tài liệu tham khảo

Lock, 1961, Stomatocytosis: a hereditary haemolytic anomaly associated with haemolytic anaemia, Br. J. Haematol., 7, 303, 10.1111/j.1365-2141.1961.tb00341.x Delaunay, 2004, The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent cations, Semin. Hematol., 41, 165, 10.1053/j.seminhematol.2004.02.005 Stewart, 2004, Hemolytic disease due to membrane ion channel disorders, Curr. Opin. Hematol., 11, 244, 10.1097/01.moh.0000132240.20671.33 Stewart, 1996, Thrombo-embolic disease after splenectomy for hereditary stomatocytosis, Br. J. Haematol., 93, 303, 10.1046/j.1365-2141.1996.4881033.x Bruce, 2005, Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1, Nat. Genet., 37, 1258, 10.1038/ng1656 Tanner, 2002, Band 3 anion exchanger and its involvement in erythrocyte and kidney disorders, Curr. Opin. Hematol., 9, 133, 10.1097/00062752-200203000-00009 Bruce, 2003, A band 3-based macrocomplex of integral and peripheral proteins in the RBC membrane, Blood, 101, 4180, 10.1182/blood-2002-09-2824 Bruce, 2008, The monovalent cation leak in over-hydrated stomatocytic red blood cells results from amino acid substitutions in the Rh associated glycoprotein (RhAG), Blood De Falco, 2008, Band 3 Ceinge (Gly796Arg) mutation causes dehydrated hereditary stomatocytosis with dyserythropoietic phenotype, Blood (ASH annual meeting abstracts), 112, 2874 Iolascon, 1999, Familial pseudohyperkalemia maps to the same locus as dehydrated hereditary stomatocytosis (hereditary xerocytosis), Blood, 93, 3120, 10.1182/blood.V93.9.3120 Carella, 2004, A second locus mapping to 2q35–36 for familial pseudohyperkalaemia, Eur. J. Hum. Genet., 12, 1073, 10.1038/sj.ejhg.5201280 Carella, 1998, Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus to chromosome 16 (16q23-qter), Am. J. Hum. Genet., 63, 810, 10.1086/302024 Guizouarn, 2007, Point mutations involved in red cell stomatocytosis convert the electroneutral anion exchanger 1 to a nonselective cation conductance, Blood, 110, 2158, 10.1182/blood-2006-12-063420 Coles, 1999, A variant of hereditary stomatocytosis with marked pseudohyperkalaemia, Br. J. Haematol., 104, 275, 10.1046/j.1365-2141.1999.01191.x Stewart, 2008, The SLC4 anion exchanger gene family, 1499 Jarolim, 1996, Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency, Blood, 88, 4366, 10.1182/blood.V88.11.4366.4366 Ellory, 2009, Leaky Cl−HCO3− exchangers: cation fluxes via modified AE1, Philos. Trans. R. Soc. London B. Biol. Soc., 364, 189, 10.1098/rstb.2008.0154 Olivieri, 1992, A case of congenital dyserythropoietic anaemia with stomatocytosis, reduced bands 7 and 8 and normal cation content, Br. J. Haematol., 80, 258, 10.1111/j.1365-2141.1992.tb08912.x Wiley, 1981, Increased erythrocyte cation permeability in thalassemia and conditions of marrow stress, J. Clin. Invest., 67, 917, 10.1172/JCI110140 Salzer, 2007, Stomatin: a new paradigm of membrane organization emerges, Dyn. Cell Biol., 1, 20 Fricke, 2004, Four new cases of stomatin-deficient hereditary stomatocytosis syndrome: association of the stomatin-deficient cryohydrocytosis variant with neurological dysfunction, Br. J. Haematol., 125, 796, 10.1111/j.1365-2141.2004.04965.x Montel-Hagen, 2008, Erythrocyte Glut1 triggers dehydroascorbic acid uptake in mammals unable to synthesize vitamin C, Cell, 132, 1039, 10.1016/j.cell.2008.01.042 Mentzer, 1975, Hereditary stomatocytosis: membrane and metabolism studies, Blood, 46, 659, 10.1182/blood.V46.5.659.659 Bonfanti, 2004, Stomatocytosis in 7 related standard Schnauzers, Vet. Clin. Pathol., 33, 234, 10.1111/j.1939-165X.2004.tb00379.x Zhu, 1999, Stomatocytosis is absent in “stomatin”-deficient murine red blood cells, Blood, 93, 2404, 10.1182/blood.V93.7.2404 Lupo, 2007, The 1.3-Å resolution structure of Nitrosomonas europaea Rh50 and mechanistic implications for NH3 transport by Rhesus family proteins, Proc. Natl. Acad. Sci. U. S. A., 104, 19303, 10.1073/pnas.0706563104 Tilley, 2008, Duclos-negative and Ol(a+) blood group phenotypes are associated with amino acid substitutions in the external loops of the Rh-associated glycoprotein, Vox Sang., 95, 37 Turner, 2003, ATP-dependent vesiculation in red cell membranes from different hereditary stomatocytosis variants, Br. J. Haematol., 120, 894, 10.1046/j.1365-2141.2003.04175.x Godin, 1980, Study of erythrocytes in a hereditary hemolytic syndrome (HHS): comparison with erythrocytes in lecithin:cholesterol acyltransferase (LCAT) deficiency, Scand. J. Haematol., 24, 122, 10.1111/j.1600-0609.1980.tb02355.x Delaunay, 2007, The molecular basis of hereditary red cell membrane disorders, Blood Rev., 21, 1, 10.1016/j.blre.2006.03.005 Wrong, 2002, Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis, Kidney Int., 62, 10, 10.1046/j.1523-1755.2002.00417.x Walsh, 2008, Cation transport activity of anion exchanger 1 mutations found in inherited distal renal tubular acidosis, Am. J. Physiol., Renal Physiol., 295, F343, 10.1152/ajprenal.00587.2007 Toye, 2004, Regions of human kidney anion exchanger 1 (kAE1) required for basolateral targeting of kAE1 in polarized kidney cells: mis-targeting explains dominant renal tubular acidosis (dRTA), J. Cell. Sci., 117, 1399, 10.1242/jcs.00974 Rungroj, 2004, A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells, J. Biol. Chem., 279, 13833, 10.1074/jbc.M400188200 Bruce, 2000, Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells, Biochem. J., 350, 41, 10.1042/0264-6021:3500041 Khositseth, 2008, Hematological abnormalities in patients with distal renal tubular acidosis and hemoglobinopathies, Am. J. Hematol., 83, 465, 10.1002/ajh.21151 Lie-Injo, 1965, Hereditary ovalocytosis and haemoglobin E-ovalocytosis in Malay Aborigines, Nature, 208, 1329, 10.1038/2081329a0 Saul, 1984, Decreased membrane deformability in Melanesian ovalocytes from Papua New Guinea, J. Cell Biol., 98, 1348, 10.1083/jcb.98.4.1348 Honig, 1971, A new familial disorder with abnormal erythrocyte morphology and increased permeability of the erythrocytes to sodium and potassium, Pediatr. Res., 5, 159, 10.1203/00006450-197104000-00003 Bruce, 1999, South-east Asian ovalocytic (SAO) erythrocytes have a cold sensitive cation leak: implications for in vitro studies on stored SAO red cells, Biochim. Biophys. Acta, 1416, 258, 10.1016/S0005-2736(98)00231-4 Dluzewski, 1992, Invasion of hereditary ovalocytes by Plasmodium falciparum in vitro and its relation to intracellular ATP concentration, Mol. Biochem. Parasitol., 55, 1, 10.1016/0166-6851(92)90121-Y Allen, 1999, Prevention of cerebral malaria in children in Papua New Guinea by southeast Asian ovalocytosis band 3, Am. J. Trop. Med. Hyg., 60, 1056, 10.4269/ajtmh.1999.60.1056 Tanner, 1991, Melanesian hereditary ovalocytes have a deletion in red cell band 3, Blood, 78, 2785, 10.1182/blood.V78.10.2785.2785 Rees, 2005, Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia, Br. J. Haematol., 130, 297, 10.1111/j.1365-2141.2005.05599.x Sheetz, 1974, Biological membranes as bilayer couples. A molecular mechanism of drug-erythrocyte interactions, Proc. Natl. Acad. Sci. U. S. A., 71, 4457, 10.1073/pnas.71.11.4457 Lim, 2002, Stomatocyte–discocyte–echinocyte sequence of the human red blood cell: evidence for the bilayer-couple hypothesis from membrane mechanics, Proc. Natl. Acad. Sci. U. S. A., 99, 16766, 10.1073/pnas.202617299 Gimsa, 1995, Do band 3 protein conformational changes mediate shape changes of human erythrocytes?, Mol. Membr. Biol., 12, 247, 10.3109/09687689509072424 Gimsa, 1998, A possible molecular mechanism governing human erythrocyte shape, Biophys. J., 75, 568, 10.1016/S0006-3495(98)77546-0 Wong, 1999, A basis of echinocytosis and stomatocytosis in the disc-sphere transformations of the erythrocyte, J. Theor. Biol., 196, 343, 10.1006/jtbi.1998.0845 Wong, 2004, A basis of the acanthocytosis in inherited and acquired disorders, Med. Hypotheses, 62, 966, 10.1016/j.mehy.2003.12.032 Wong, 2001, A hypothesis of the stomatocytosis in individuals with the phenotype Rh(null), Med. Hypotheses, 57, 770, 10.1054/mehy.2001.1489 Weber, 2008, GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak, J. Clin. Invest., 118, 2157, 10.1172/JCI34438