Disorders of Band 3

  • Petr Jarolim


Band 3 is the most abundant protein of the red blood cell (RBC) membrane and plays multiple structural and functional roles. It is therefore no surprise that numerous mutations in the band 3 gene have been described and found to be associated with several erythroid phenotypes. In addition, band 3 is expressed in renal collecting ducts and a distinct group of band 3 mutations have been linked to the phenotype of distal renal tubular acidosis. In the following paragraphs, we will segregate band 3 defects according to the primarily affected tissue (erythroid vs. non-erythroid) and to the degree of band 3 deficiency caused by the mutations.


Renal Tubular Acidosis Blood Group Antigen Hereditary Spherocytosis Membrane Skeleton Distal Renal Tubular Acidosis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Alloisio N, Maillet P, Carre G, Texier P, Vallier A, Baklouti F, Philippe N, Delaunay J (1996) Hereditary spherocytosis with band 3 deficiency. Association with a nonsense mutation of the band 3 gene (allele Lyon), and aggravation by a low-expression allele occurring in trans (allele Genas). Blood 88:1062–1069Google Scholar
  2. Alloisio N, Texier P, Vallier A, Ribeiro ML, Morle L, Bozon M, Bursaux E, Maillet P, Goncalves P, Tanner MJA, Tamagnini G, Delaunay J (1997) Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis. Blood 90:414–420Google Scholar
  3. Amato D, Booth PB (1977) Hereditary ovalocytosis in Melanesians. Papua New Guinea Medical Journal 20:26–32Google Scholar
  4. Bianchi P, Zanella A, Alloisio N, Barosi G, Bredi E, Pelissero G, Zappa M, Vercellati C, Baronciani L, Delaunay J, Sirchia G (1997) A variant of the EPB3 gene of the anti-Lepore type in hereditary spherocytosis. Br J Haematol 98:283–288CrossRefGoogle Scholar
  5. Booth PB, Serjeantson S, Woodfield DG, Amato D (1977) Selective depression of blood group antigens associated with hereditary ovalocytosis among Melanesians. Vox Sanguinis 32:99–110CrossRefGoogle Scholar
  6. Bracher NA, Lyons CA, Wessels G, Mansvelt E, Coetzer TL (2001) Band 3 Cape Town (E90K) causes severe hereditary spherocytosis in combination with band 3 Prague III. Br J Haematol 113:689–693CrossRefGoogle Scholar
  7. Bruce LJ, Kay MMB, Lawrence C, Tanner MJA (1993) Band 3 HT, a human red-cell variant associated with acanthocytosis and increased anion transport, carries the mutation Pro-868→Leu in the membrane domain of band 3. Biochem J 293:317–320Google Scholar
  8. Bruce LJ, Anstee DJ, Spring FA, Tanner MJA (1994) Band 3 Memphis variant II. Altered stilbene disulfonate binding and the Diego (Dia) blood group antigen are associated with the human erythrocyte band 3 mutation Pro854→Leu. J Biol Chem 269:16155–16158Google Scholar
  9. Bruce LJ, Ring SM, Anstee DJ, Reid ME, Wilkinson S, Tanner MJA (1995) Changes in the blood group Wright antigens are associated with a mutation at amino acid 658 in human erythrocyte band 3: A site of interaction between band 3 and glycophorin A under certain conditions. Blood 85:541–547Google Scholar
  10. Bruce LJ, Cope DL, Jones GK, Schofield AE, Burley M, Povey S, Unwin RJ, Wrong O, Tanner MJA (1997) Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (band 3, AE1) gene. J Clin Invest 100:1693–1707CrossRefGoogle Scholar
  11. Bruce LJ, Ring SM, Ridgwell K, Reardon DM, Seymour CA, Vandort HM, Low PS, Tanner MJA (1999) Southeast Asian ovalocytic (SAO) erythrocytes have a cold sensitive cation leak: implications for in vitro studies on stored SAO red cells. Biochim Biophys Acta 1416:258–270CrossRefGoogle Scholar
  12. Bruce LJ, Wrong O, Toye AM, Young MT, Ogle G, Ismail Z, Sinha AK, McMaster P, Hwaihwanje I, Nash GB, Hart S, Lavu E, Palmer R, Othman A, Unwin RJ, Tanner MJ (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 350:41–51CrossRefGoogle Scholar
  13. Castelino D, Saul A, Myler P, Kidson C, Thomas H, Cooke R (1981) Ovalocytosis in Papua New Guinea: dominantly inherited resistance to malaria. Southeast Asian J Trop Med Pub Health 12:549–555Google Scholar
  14. Cattani JA, Gibson FD, Alpers MP, Crane GG (1987) Hereditary ovalocytosis and reduced susceptibility to malaria in Papua New Guinea. Trans Royal Soc Trop Med Hyg 81:705–709CrossRefGoogle Scholar
  15. Chernova MN, Jarolim P, Palek J, Alper SL (1995) Overexpression of AE1 Prague, but not of AE1 SAO, inhibits wild-type AE1 trafficking in Xenopus oocytes. J Membrane Biol 148:203–210CrossRefGoogle Scholar
  16. De Franceschi L, Turrini F, Delgiudice EM, Perrotta S, Olivieri O, Corrocher R, Mannu F, Iolascon A (1998) Decreased band 3 anion transport activity and band 3 clusterization in congenital dyserythropoietic anemia type II. Exp Hematol 26:869–873Google Scholar
  17. Delgiudice EM, Vallier A, Maillet P, Perrotta S, Cutillo S, Iolascon A, Tanner MJA, De-launay J, Alloisio N (1997) Novel band 3 variants (bands 3 Foggia, Napoli I and Na-poli II) associated with hereditary spherocytosis and band 3 deficiency: Status of the D38A polymorphism within the EPB3 locus. Br J Haematol 96:70–76CrossRefGoogle Scholar
  18. Dhermy D, Galand C, Bournier O, Boulanger L, Cynober T, Schismanoff PO, Bursaux E, Tchernia G, Boivin P, Garbarz M (1997) Heterogenous band 3 deficiency in hereditary spherocytosis related to different band 3 gene defects. Br J Haematol 98:32–40CrossRefGoogle Scholar
  19. Dluzewski AR, Nash GB, Wilson RJM, Reardon DM, Gratzer WB (1992) Invasion of hereditary ovalocytes by Plasmodium falciparum in vitro and its relation to intracellular ATP concentration. Mol Biochem Parasitol 55:1–7CrossRefGoogle Scholar
  20. Eber SW, Gonzalez JM, Lux ML, Scarpa AL, Tse WT, Dornwell M, Herbers J, Kugler W, Ozcan R, Pekrun A, Gallagher PG, Schroter W, Forget BG, Lux SE (1996) Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. Nat Genet 13:214–218CrossRefGoogle Scholar
  21. Fix AG, Baer AS, Lie-Injo LE (1982) The mode of inheritance of ovalocyto-sis/elliptocytosis in Malaysian Orang Asli families. Hum Genet 61:250–253CrossRefGoogle Scholar
  22. Hadley T, Saul A, Lamont G, Hudson DE, Miller LH, Kidson C (1983) Resistance of Melanesian elliptocytes (ovalocytes) to invasion by Plasmodium knowlesi and Plasmodium falciparum malaria parasites in vitro. J Clin Invest 71:780–782CrossRefGoogle Scholar
  23. Hassoun H, Hanada T, Lutchman M, Sahr KE, Palek J, Hanspal M, Chishti AH (1998a) Complete deficiency of glycophorin A in red blood cells from mice with targeted inac-tivation of the band 3 (AE1) gene. Blood 91:2146–2151Google Scholar
  24. Hassoun H, Wang Y, Vassiliadis J, Lutchman M, Palek J, Aish L, Aish IS, Liu SC, Chishti AH (1998b) Targeted inactivation of murine band 3 (AE1) gene produces a hyperco-agulable state causing widespread thrombosis in vivo. Blood 92:1785–1792Google Scholar
  25. Holt M, Hogan PF, Nurse GT (1981) The ovalocytosis polymorphism on the Western border of Papua New Guinea. Hum Biol 53:23–34Google Scholar
  26. Honig GR, Lacson PS, Maurer HS (1971) A new familial disorder with abnormal erythrocyte morphology and increased permeability of the erythrocytes to sodium and potassium. Pediatric Res 5:159–165CrossRefGoogle Scholar
  27. Hsu L, Morrison M (1985) A new variant of the anion transport protein in human erythrocytes. Biochemistry 24:3086–3090CrossRefGoogle Scholar
  28. Inaba M, Yawata A, Koshino I, Sato K, Takeuchi M, Takakuwa Y, Manno S, Yawata Y, Kanzaki A, Sakai J, Ban A, Ono K, Maede Y (1996) Defective anion transport and marked spherocytosis with membrane instability caused by hereditary total deficiency of red cell band 3 in cattle due to a nonsense mutation. J Clin Invest 97:1804–1817CrossRefGoogle Scholar
  29. Iwase S, Ideguchi H, Takao M, Horiguchiyamada J, Iwasaki M, Takahara S, Sekikawa T, Mochizuki S, Yamada H (1998) Band 3 Tokyo: Thr(837)→Ala(837) substitution in erythrocyte band 3 protein associated with spherocytic hemolysis. Acta Haematol 100:200–203CrossRefGoogle Scholar
  30. Jarolim P, Palek J, Amato D, Hassan K, Sapak P, Nurse GT, Rubin HL, Zhai S, Sahr KE, Liu SC (1991) Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis. Proc Natl Acad Sci USA 88:11022–11026ADSCrossRefGoogle Scholar
  31. Jarolim P, Brabec V, Ballas SK, Prchal JT, Poon M-C, Castleberry R, Arnold D, Coetzer TL, Liu S-C, Palek J (1992a) Biochemical heterogeneity of the hereditary spherocytosis syndrome. Abstracts of the 24th Congress of the International Society of Haema-tology, London, p 35Google Scholar
  32. Jarolim P, Palek J, Rubin HL, Prchal JT, Korsgren C, Cohen CM (1992b) Band 3 Tuscaloosa: Pro327—»Arg327 substitution in the cytoplasmic domain of erythrocyte band 3 protein associated with spherocytic hemolytic anemia and partial deficiency of protein 4.2. Blood 80:523–529Google Scholar
  33. Jarolim P, Rubin HL, Zhai S, Sahr KE, Liu SC, Mueller TJ, Palek J (1992c) Band 3 Memphis: a widespread polymorphism with abnormal electrophoretic mobility of erythrocyte band 3 protein caused by substitution AAG?GAG (Lys→Glu) in codon 56. Blood 80:1592–1598Google Scholar
  34. Jarolim P, Rubin HL, Liu S-C, Cho MR, Brabec V, Derick LH, Yi SJ, Saad STO, Alper S, Brugnara C, Golan DE, Palek J (1994a) Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3PRAGUE). J Clin Invest 93:121–130CrossRefGoogle Scholar
  35. Jarolim P, Brabec V, Chrobak L, Alper SL, Brugnara C, Corbett JD, Cho MR, Golan DE (1994b) Decreased band 3 content, sulfate flux, and band 3 fractional mobility in congenital dyserythropoietic anemia. Blood 84, suppl 1:6aGoogle Scholar
  36. Jarolim P, Rubin HL, Moulds JM (1994c) Molecular characterization of the Diego blood group antigen. Blood 84, suppl 1:237aGoogle Scholar
  37. Jarolim P, Rubin HL, Brabec V, Chrobak L, Zolotarev AS, Alper SL, Brugnara C, Wich-terle H, Palek J (1995) Mutations of conserved arginines in the membrane domain of erythroid band 3 protein lead to a decrease in membrane-associated band 3 and to the phenotype of hereditary spherocytosis. Blood 85:634–640Google Scholar
  38. Jarolim P, Murray JL, Rubin HL, Taylor WM, Prchal JT, Ballas SK, Snyder LM, Chrobak L, Melrose WD, Brabec V, Palek J (1996) Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency. Blood 88:4366–4374Google Scholar
  39. Jarolim P, Murray JL, Rubin HL, Smart E, Moulds JM (1997a) Blood group antigens Rba, Tra, and Wda are located in the third ectoplasmic loop of erythrocyte band 3 protein. Transfusion 37:607–615CrossRefGoogle Scholar
  40. Jarolim P, Murray JL, Rubin HL, Coghlan G, Zelinski T (1997b) A Thr552→Ile substitution in erythroid band 3 gives rise to the Warrior blood group antigen. Transfusion 37:398–405CrossRefGoogle Scholar
  41. Jarolim P, Rubin HL, Zakova D, Stony J, Reid ME (1998a) Characterization of seven low incidence blood group antigens carried by erythrocyte band 3 protein. Blood 92:4836–4843Google Scholar
  42. Jarolim P, Shayakul C, Prabakaran D, Jiang LW, Stuarttilley A, Rubin HL, Simova S, Za-vadil J, Herrin JT, Brouillette J, Somers MG, Seemanova E, Brugnara C, Guaywood-ford LM, Alper SL (1998b) Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) C17HCO; exchanger. J Biol Chem 273:6380–6388CrossRefGoogle Scholar
  43. Jennings ML, Gosselink PG (1995) Anion exchange protein in southeast Asian ovalocytes: Heterodimer formation between normal and variant subunits. Biochemistry 34:3588–3595CrossRefGoogle Scholar
  44. Jenkins PA, Abou-Alfa GK, Dhermy D, Bursaux E, Feo C, Scarpa AL, Lux SE, Garbarz M, Forget BG, Gallagher PG (1996) A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis. J Clin Invest 97:373–380CrossRefGoogle Scholar
  45. Jones GL (1984) Red cell membrane proteins in Melanesian ovalocytosis — autophosphory-lation and proteolysis. Proc Australian Biochem Soc 16:34–34Google Scholar
  46. Jones GL, McLemore-Edmundson H, Wesche D, Saul A (1991) Human erythrocyte band 3 has an altered N-terminus in malaria-resistant Melanesian ovalocytosis. Biochim Bio-phys Acta 1096:33–40CrossRefGoogle Scholar
  47. Kanzaki A, Takezono M, Kaku M, Yawata A, Ozcan R, Kugler W, Eber SW, Yawata Y (1997) Molecular and genetic characteristics in Japanese patients with hereditary spherocytosis: Frequent band 3 mutations and rarer ankyrin mutations. Blood 90, suppl 1:6bGoogle Scholar
  48. Karet FE, Gainza FJ, Gyory AZ, Unwin RJ, Wrong O, Tanner MJA, Nayir A, Alpay H, Santos F, Hulton SA, Bakkaloglu A, Ozen S, Cunningham MJ, Dipietro A, Walker WG, Lifton RP (1998) Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. Proc Natl Acad Sci USA 95:6337–6342ADSCrossRefGoogle Scholar
  49. Kidson C, Lamont G, Saul A, Nurse GT (1981) Ovalocytic erythrocytes from Melanesians are resistant to invasion by malaria parasites in culture. Proc Natl Acad Sci USA 78:5829–5832ADSCrossRefGoogle Scholar
  50. Lie-Injo LE (1965) Hereditary ovalocytosis and haemoglobin E-ovalocytosis in Malayan aborigines. Nature 208:1329–1331ADSCrossRefGoogle Scholar
  51. Lima PRM, Gontijo JAR, Defaria JBL, Costa FF, Saad STO (1997) Band 3 Campinas: A novel splicing mutation in the band 3 gene (AE1) associated with hereditary spherocytosis, hyperactivity of Na+/Li+ countertransport and an abnormal renal bicarbonate handling. Blood 90:2810–2818Google Scholar
  52. Liu SC, Zhai S, Palek J, Golan DE, Amato D, Hassan K, Nurse GT, Babona D, Coetzer T, Jarolim P, Zaik M, Borwein S (1990) Molecular defect of the band 3 protein in Southeast Asian ovalocytosis. N Engl J Med 323:1530–1538CrossRefGoogle Scholar
  53. Liu SC, Jarolim P, Rubin HL, Palek J, Amato D, Hassan K, Zaik M, Sapak P (1994) The homozygous state for the band 3 protein mutation in Southeast Asian ovalocytosis may be lethal. Blood 84:3590–3591Google Scholar
  54. Liu SC, Palek J, Yi SJ, Nichols PE, Derick LH, Chiou SS, Amato D, Corbett JD, Cho MR, Golan DE (1995) Molecular basis of altered red blood cell membrane properties in southeast Asian ovalocytosis: Role of the mutant band 3 protein in band 3 oligomeriza-tion and retention by the membrane skeleton. Blood 86:349–358Google Scholar
  55. Maillet P, Vallier A, Reinhart WH, Wyss EJ, Ott P, Texier P, Baklouti F, Tanner MJA, De-launay J, Alloisio N (1995) Band 3 Chur: A variant associated with band 3-deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11. Br J Haematol 91:804–810CrossRefGoogle Scholar
  56. McManus K, Lupe K, Coghlan G, Zelinski T (2000) An amino acid substitution in the putative second extracellular loop of RBC band 3 accounts for the Froese blood group polymorphism. Transfusion 40:1246–1249CrossRefGoogle Scholar
  57. Mohandas N, Lie-Injo LE, Friedman M, Mak JW (1984) Rigid membranes of Malayan ovalocytes: a likely genetic barrier against malaria. Blood 63:1385–1392Google Scholar
  58. Mohandas N, Winardi R, Knowles D, Leung A, Parra M, George E, Conboy J, Chasis J (1992) Molecular basis for membrane rigidity of hereditary ovalocytosis — a novel mechanism involving the cytoplasmic domain of band-3. J Clin Invest 89:686–692CrossRefGoogle Scholar
  59. Mueller TJ, Morrison M (1977) Detection of a variant of protein 3, the major transmembrane protein on the human erythrocyte. J Biol Chem 252:6573–6576Google Scholar
  60. Paw BH, Zhou Y, Li R, Pratt SJ, Davidson AJ, Trede NS, Brownlie A, Donovan A, Liao EC, Drejer A, Peters LL, Gwynn B, Lux SE, Zon LI (2000) Cloning of the zebrafish retsina blood mutation: mutations in erythroid band 3 result in dyserythropoiesis and cytokinesis defects. Blood 96, suppl 1:440aGoogle Scholar
  61. Perrotta S, Polito R, Conte ML, Nobili B, Cutillo S, Delgiudice EM, Nigro V, Iolascon A, Amendola G (1999) Hereditary spherocytosis due to a novel frameshift mutation in AE1 cytoplasmic COOH terminal tail: Band 3 Vesuvio. Blood 93:2131–2132Google Scholar
  62. Peters LL, Shivdasani RA, Liu SC, Hanspal M, John KM, Gonzalez JM, Brugnara C, Gwynn B, Mohandas N, Alper SL, Orkin SH, Lux SE (1996) Anion exchanger 1 (band 3) is required to prevent erythrocyte membrane surface loss but not to form the membrane skeleton. Cell 86:917–927CrossRefGoogle Scholar
  63. Peters LL, Andersen SG, Gwynn B, Li R, Lux SE, Churchill GA (2001) A QTL on mouse chromosome 12 modifies the band 3 bull phenotype: ß spectrin is a candidate gene. Blood 98, suppl 1:437aGoogle Scholar
  64. Poole J, Hallewell H, Bruce L, Tanner MJA, Zupanska B, Kusnierz-Alejska G (1997) Identification of two new Jn(a+) individuals and assignment of Jna to erythrocyte band 3. Transfusion 37, suppl:90SGoogle Scholar
  65. Quilty JA, Reithmeier RA (2000) Trafficking and folding defects in hereditary spherocytosis mutants of the human red cell anion exchanger. Traffic 1:987–998CrossRefGoogle Scholar
  66. Quilty JA, Li J, Reithmeier AF (2002) Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger (kAEl). Am J Physiol 282:F810–F820Google Scholar
  67. Ribeiro ML, Alloisio N, Almeida H, Gomes C, Texier P, Lemos C, Mimoso G, Morle L, Bey-Cabet F, Rudigoz RC, Delaunay J, Tamagnini G (2000) Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3. Blood 96:1602–1604Google Scholar
  68. Rybicki AC, Qiu JJH, Musto S, Rosen NL, Nagel RL, Schwartz RS (1993) Human erythrocyte protein 4.2 deficiency associated with hemolytic anemia and a homozygous 40glutamic acid→lysine substitution in the cytoplasmic domain of band 3 (Band 3Montefiore). Blood 81:2155–2165Google Scholar
  69. Rysava R, Tesar V, Jirsa M, Brabec V, Jarolim P (1997) Renal tubular acidosis associated a band 3 gene mutation. Nephrol Dial Transplant 12:1869–1873CrossRefGoogle Scholar
  70. Salhany JM, Schopper LM, Kay MMB, Gamble DN, Lawrence C (1995) Differential sensitivity of stilbenedisulfonates in their reaction with band 3 HT (Pro-868→Leu). Proc Natl Acad Sci USA 92:11844–11848ADSCrossRefGoogle Scholar
  71. Saul A, Lamont G, Sawyer WH, Kidson C (1984) Decreased membrane deformability in Melanesian ovalocytes from Papua New Guinea. J Cell Biol 98:1348–1354CrossRefGoogle Scholar
  72. Savvides P, Shalev O, John KM, Lux SE (1993) Combined spectrin and ankyrin deficiency is common in autosomal dominant hereditary spherocytosis. Blood 82:2953–2960Google Scholar
  73. Schofield AE, Tanner MJA, Pinder JC, Clough B, Bayley PM, Nash GB, Dluzewski AR, Reardon DM, Cox TM, Wilson RJM, Gratzer WB (1992a) Basis of unique red cell membrane properties in hereditary ovalocytosis. J Mol Biol 223:949–958CrossRefGoogle Scholar
  74. Schofield AE, Reardon DM, Tanner MJA (1992b) Defective anion transport activity of the abnormal band-3 in hereditary ovalocytic red blood cells. Nature 355:836–838ADSCrossRefGoogle Scholar
  75. Serjeantson S, Bryson K, Amato D, Babona D (1977) Malaria and hereditary ovalocytosis. Hum Genet 37:161–167CrossRefGoogle Scholar
  76. Shayakul C and Alper SL (2000) Inherited renal tubular acidosis. Curr Opin Nephrol Hy-pertens 9:541–546CrossRefGoogle Scholar
  77. Shayakul C, Jarolim P, Alper SL (1999) Autosomal dominant distal renal tubular acidosis and the AE1 gene. Am J Kidney Dis 33:1194–1197CrossRefGoogle Scholar
  78. Southgate CD, Chishti AH, Mitchell B, Yi SJ, Palek J (1996) Targeted disruption of the murine erythroid band 3 gene results in spherocytosis and severe haemolytic anaemia despite a normal membrane skeleton. Nat Genet 14:227–230CrossRefGoogle Scholar
  79. Spring FA, Bruce LJ, Anstee DJ, Tanner MJA (1992) A red cell band 3 variant with altered stilbene disulphonate binding is associated with the Diego (Dia) blood group antigen. Biochem J 288:713–716Google Scholar
  80. Tanner MJA, Bruce L, Groves JD, Martin PG, Schofield AE (1992) The defective red cell anion transporter (band 3) in hereditary South East Asian ovalocytosis and the role of glycophorin A in the expression of band 3 anion transport activity in Xenopus oocytes. Biochem Soc Trans 20:542–546Google Scholar
  81. Tanphaichitr VS, Sumboonnanonda A, Ideguchi H, Shayakul C, Brugnara C, Takao M, Veerakul G, Alper SL (1998) Novel AE1 mutations in recessive distal renal tubular acidosis — Loss-of-function is rescued by glycophorin A. J Clin Invest 102:2173–2179CrossRefGoogle Scholar
  82. Tilley L, Nash GB, Jones GL, Sawyer WH (1991) Decreased rotational diffusion of band 3 in melanesian ovalocytes from Papua New Guinea. J Membrane Biol 121:59–66CrossRefGoogle Scholar
  83. Vasuvattakul S, Yenchitsomanus PT, Vachuanichsanong P, Thuwajit P, Kaitwatcharachai C, Laosombat V, Malasit P, Wilairat P, Nimmannit S (1999) Autosomal recessive distal renal tubular acidosis associated with Southeast Asian ovalocytosis. Kidney Int 56:1674–1682CrossRefGoogle Scholar
  84. Yannoukakos D, Vasseur C, Driancourt C, Blouquit Y, Delaunay J, Wajcman H, Bursaux E (1991) Human erythrocyte band 3 polymorphism (band 3 Memphis): characterization of the structural modification (Lys56→Glu) by protein chemistry methods. Blood 78:1117–1120Google Scholar
  85. Zelinski T, Mckeown I, McAlpine PJ, Philipps S, Coghlan G (1996) Assignment of the gene(s) governing Froese and Swann blood group polymorphism to chromosome 17q. Transfusion 36:419–420CrossRefGoogle Scholar
  86. Zelinski T, Rusnak A, McManus M, Coghlan G (1997a) A G?A mutation in the anion exchanger 1 gene (AE1) accounts for the Swann blood group polymorphism. Transfusion 37, suppl:89SGoogle Scholar
  87. Zelinski T, Pongoski J, Coghlan G (1997b) The low incidence erythrocyte antigen NFLD is associated with membrane protein band 3. Transfusion 37, suppl:90SGoogle Scholar
  88. Zelinski T, McManus K, Punter F, Moulds M, Coghlan G (1998) A Gly565→Ala substitution in human erythroid band 3 accounts for the Wu blood group polymorphism. Transfusion 38:745–748CrossRefGoogle Scholar
  89. Zelinski T, Rusnak A, McManus K, Coghlan G (2000) Distinctive Swann blood group genotypes: molecular investigations. Vox Sang 79:215–218CrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2003

Authors and Affiliations

  • Petr Jarolim
    • 1
  1. 1.Department of Pathology, Brigham and Women’s HospitalHarvard Medical SchoolBostonUSA

Personalised recommendations