Seminars in Hematology
Volume 41, Issue 2 , Pages 165-172 , April 2004

The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent cations

  • Jean Delaunay

      Affiliations

    • Service d’Hématologie, d’Immunologie et de Cytogénétique, Hôpital de Bicêtre, and Faculté de Médecine Paris-Sud, Le Kremlin-Bicêtre, France
    • Corresponding Author InformationAddress correspondence to Jean Delaunay, MD, INSERM U 473, 84 rue du Général-Leclerc, 94273 Le Kremlin-Bicêtre, France

References 

  1. Lock SP, Sephton Smith R, Hardisty RM. Stomatocytosis (A hereditary haemolytic anomaly associated with haemolytic anaemia). Br J Haematol. 1961;7:303–314
  2. Online Mendelian Inheritance in Man. http://www.ncbi.nlm.nih.gov/omim/
  3. Bosma PJ, Chowdhury JR, Bakker C, Gantla S, De Boer A, Oostra BA, et al.  The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert’s syndrome. N Engl J Med. 1995;333:1171–1175
  4. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al.  A novel MHC I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996;13:399–408
  5. Clark MR, Mohandas N, Shohet SB. Osmotic gradient ektacytometry. Comprehensive characterization of the red cell volume and surface maintenance. Blood. 1983;61:899–910
  6. Stewart GW, Corral RJ, Fyffe JA, Stockdill G, Strong JA. Familial pseudohyperkalemia. A new syndrome. Lancet. 1979;8135:1775–1777
  7. Gordon RD, Ravenscroft PJ, Klemm SA, Tunny TJ, Hamlet SM. A new Australian kindred with the syndrome of hypertension and hyperkalaemia has dysregulation of atrial natriuretic factor. J Hypertens. 1988;6(suppl 4):S323–S326
  8. Mansfield TA, Simon DB, Farfel Z, Bia M, Tucci JR, Lebel M, et al.  Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31–42 and 17p11-q21. Nat Genet. 1997;16:202–205
  9. Wilson FH, Disse-Nicodeme S, Choate KA, Ishikawa K, Nelson-Williams C, Desitter I, et al.  Human hypertension caused by mutations in WNK kinases. Science. 2001;293:1107–1112
  10. Axford JS, Rampton DS, Mayne PD. Pseudohyperkalaemia. Br Med J. 1985;291:1202; (letter)
  11. Meenaghan M, Follett GF, Brophy PJ. Temperature sensitivity of potassium flux into red blood cells in the familial pseudohyperkalaemia syndrome. Biochim Biophys Acta. 1985;821:72–78
  12. Haines PG, Crawley C, Chetty M, Jarvis H, Coles SE, Fisher J, et al.  Familial pseudohyperkalaemia Chiswick (A novel congenital thermotropic variant of K and Na transport across the human red cell membrane). Br J Haematol. 2001;112:469–474
  13. Gore D, Chetty M, Fisher J, Nicolaou A, Stewart G. Familial pseudohyperkalaemia Cardiff (A mild version of cryohydrocytosis). Br J Haematol. 2002;117:212–214
  14. Luciani JC, Lavabre-Bertrand T, Fourcade J, Barjon P, Mimran A, Callis A. Familial pseudohyperkalaemia. Lancet. 1980;8166:491
  15. Vantyghem MC, Dagher G, Doise B, Lallau G, Vandewalle B, Racadot A, et al.  Pseudo-hyperkaliémie. A propos d’une observation familiale. Ann Endocrinol. 1991;52:104–108
  16. Iolascon A, Stewart G, Ajetunmobi JF, Perrotta S, Delaunay J, Carella M, et al.  Pseudohyperkalemia maps to the same locus as dehydrated hereditary stomatocytosis. Blood. 1999;93:3120–3123
  17. Oski FA, Naiman JL, Blum SF, Zarkowsky HS, Whaun J, Shohet SB, et al.  Congenital hemolytic anemia with high-sodium, low-potassium red cells. Studies of three generations of a family with a new variant. N Engl J Med. 1969;280:909–916
  18. Grootenboer S, Schischmanoff PO, Laurendeau I, Cynober T, Tchernia G, Dommergues JP, et al.  Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia and perinatal edema maps to 16q23–q24. Blood. 2000;96:2599–2605
  19. Carella M, Stewart G, Ajetunmobi JF, Perrotta S, Grootenboer S, Tchernia G, et al.  Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis) (Mapping of locus to chromosome 16 (16q23-qter)). Am J Hum Genet. 1998;63:810–816
  20. Stewart GW, Amess JAL, Eber SW, Kingswood C, Lane PA, Smith BD, et al.  Thrombo-embolic disease after splenectomy for hereditary stomatocytosis. Br J Haematol. 1996;93:303–310
  21. Jaı̈s X, Till J, Cynober T, Ioos V, Garcia G, Tchernia G, et al.  Chronic thromboembolic pulmonary hypertension following splenectomy in a patient with dehydrated hereditary stomatocytosis. Hemoglobin. 2003;27:139–147
  22. Coles SE, Ho MH, Chetty MC, Nicolaou A, Stewart GW. A variant of hereditary stomatocytosis with marked pseudohyperkalaemia. Br J Haematol. 1999;104:275–283
  23. Bergheim J, Ernst P, Brinch L, Gore DM, Chetty MC, Stewart GW. Allogeneic bone marrow transplantation for severe post-splenectomy thrombophilic state in leaky red cell membrane haemolytic anaemia of the stomatocytosis class. Br J Haematol. 2003;121:119–122
  24. Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, et al.  Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 1994;369:64–67
  25. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood. 1996;88:3698–3703
  26. Entezami M, Becker R, Menssen HD, Marcinkowski M, Versmold HT. Xerocytosis with concomitant intrauterine ascites (First description and therapeutic approach). Blood. 1996;87:5392–5393 (letter)
  27. Grootenboer S, Schischmanoff PO, Cynober T, Rodrigue JC, Delaunay J, Tchernia G, et al.  A genetic syndrome associating dehydrated hereditary stomatocytosis, pseudohyperkalaemia and perinatal oedema. Br J Haematol. 1998;103:383–386
  28. Grootenboer S, Barro C, Cynober C, Schischmanoff PO, Ayoubi JM, Tchernia G, et al.  Dehydrated hereditary stomatocytosis (A cause of prenatal edema). Prenat Diagn. 2001;21:1114–1118
  29. Grootenboer-Mignot S, Crétien A, Laurendeau I, Poissonnier MH, Francoual C, Doireau V, et al.  Nearly lethal hydrops as a manifestation of dehydrated hereditary stomatocytosis upon two consecutive pregnancies. Prenat Diagn. 2003;23:380–384
  30. Basu AP, Carey P, Cynober T, Chetty M, Delaunay J, Stewart GW, et al.  Dehydrated hereditary stomatocytosis with transient perinatal ascites. Arch Dis Child Fetal Neaonatal Ed. 2003;88:F438–F439
  31. Alani FSS, Dyer T, Hindle E, Newsome DA, Ormerod LP, Mahoney MP. Pseudohyperkalaemia associated with hereditary spherocytosis in four members of a family. Postgrad Med J. 1994;70:749–751
  32. Carella M, Stewart G, Ajetunmobi JF, Schettini F, Delaunay J, Iolascon A. Genetic heterogeneity of hereditary stomatocytosis syndrome showing pseudohyperkalaemia. Haematologica. 1999;84:862–863 (letter)
  33. Miller G, Townes PL, MacWhinney JB. A new congenital hemolytic anemia with deformed erythrocytes (? “stomatocytes”) and remarkable susceptibility of erythrocytes to cold hemolysis in vitro. I. Clinical and hematologic studies. Pediatrics. 1965;35:906–915
  34. Coles SE, Chetty MC, Ho MM, Nicolaou A, Kearney JW, Wright SD, et al.  Two British families with variants on the ‘cryohyrocytosis’ form of hereditary stomatocytosis. Br J Haematol. 1999;105:1055–1065
  35. Haines PG, Jarvis HG, King S, Noormohamed FH, Chetty MC, Fisher J, et al.  Two further British families with the ‘cryohydrocytosis’ form of hereditary stomatocytosis. Br J Haematol. 2001;113:932–937
  36. Hiebl-Dirschmied CM, Entler B, Glotzmann C, Maurer-Fogy I, Stratowa C, et al.  Cloning and nucleotide sequence of cDNA encoding human erythrocyte band 7 integral membrane protein. Biochim Biophys Acta. 1991;1090:123–124
  37. Stewart GW, Hepworth-Jones BE, Keen JN, Dash BCJ, Argent AC, Casimir CM. Isolation of cDNA coding for an ubiquitous membrane protein deficient in high Na+, low K+ stomatocytic erythrocytes. Blood. 1992;79:1593–1601
  38. Snyers L, Umlauf E, Prohaska R. Cystein 29 is the major palmitoylation site on stomatin. FEBS Lett. 1999;449:101–104
  39. Salzer U, Ahorn H, Prohaska R. Identification of the phosphorylation site on human erythrocyte band 7 integral membrane protein (Implications for a monotopic protein structure). Biochim Biophys Acta. 1993;1151:149–152
  40. Salzer U, Prohaska R. Stomatin, flotillin-1 and flotillin-2 are major integral proteins of erythrocyte lipids rafts. Blood. 2001;97:1141–1143
  41. Simons K, Toomre D. Lipids rafts and signal transduction. Nat Rev. 2000;1:31–33
  42. Gallagher PG, Upender M, Ward DC, Forget BG. The gene for human erythrocyte membrane protein band 7.2 (EPB72) maps to 9q33–q34 centromeric to the Philadelphia chromosome translocation breakpoint region. Genomics. 1993;18:167–169
  43. Westberg JA, Entler B, Prohaska R, Schröder JP. The gene coding for erythrocyte protein band 7.2b (EPB72) is located in band q34.1 of human chromosome 9. Cytogenet Cell Genet. 1993;63:241–243
  44. Gallagher PG, Forget BG. Structure, organization, and expression of the human band 7.2b gene, a candidate gene for hereditary hydrocytosis. J Biol Chem. 1995;270:26358–26363
  45. Unfried I, Entler B, Prohaska R. The organization of the gene (EPB72) encoding the human erythrocyte band 7 integral membrane protein (protein 7.2b). Genomics. 1995;30:521–528
  46. Huang M, Gu G, Ferguson EL, Chalfie M. A stomatin-like protein necessary for mechanosensation in C. elegans. Nature. 1995;378:292–295
  47. Meadow SR. Stomatocytosis. Proc R Soc Med. 1967;60:13–15
  48. Bienzle U, Niethammer D, Kleeberg U, Ungefehr K, Kohne E, Kleihauer E. Congenital stomatocytosis and chronic haemolytic anaemia. Scand J Haematol. 1975;15:339–346
  49. Eber SW, Lande WM, Iarocci TA, Mentzer WC, Höhn P, Wiley JS, et al.  Hereditary stomatocytosis (consistent association with an integral membrane protein deficiency). Br J Haematol. 1989;72:452–455
  50. Morlé L, Pothier B, Alloisio N, Féo C, Garay R, Bost M, et al.  Reduction of membrane band 7 and activation of volume stimulated (K+, Cl)-cotransport in a case of congenital stomatocytosis. Br J Haematol. 1989;71:141–146
  51. Rix M, Bjerrum PJ, Wieth O, Fransen B. Medtfodt stomatocytose med haemolytisk anaemi-med abnorm kationpermeabilitet og defekte membranproteiner. Ugeskr Laeger. 1991;153:724–725
  52. Lande WM, Thiemann PVW, Mentzer WC. Missing band 7 membrane protein in two patients with high Na, low K erythrocytes. J Clin Invest. 1982;70:273–1280
  53. Wang D, Turetsky T, Perrine S, Johnson RM, Mentzer WC. Further studies on RBC membrane protein 7.2b deficicency in hereditary stomatocytosis. Blood. 1992;80(suppl 1):275a; (abstr)
  54. Fricke B, Argent AC, Chetty MC, Pizzey AR, Turner EJ, Ho MM, et al.  The ‘stomatin’ gene and protein in overhydrated hereditary stomatocytosis. Blood. 2003;102:2268–2277
  55. Zhu Y, Paszty C, Turetky T, Tsai S, Kuypers FA, Lee G, et al.  Stomatocytosis is absent in ‘stomatin’-deficient murine red blood cells. Blood. 1999;93:2404–2410
  56. Argent AC, Fricke B, Ajetunmobi JF, Bertrand Y, Philippe N, Khogali S, et al.  A family showing recessively-inherited multi-system pathology with aberrant splicing of the erythrocyte Band 7.2b (‘stomatin’) gene. J Inherit Metab Dis. 2004;27:1–18
  57. Stewart GW, O’Brien H, Morris SA, Owen JS, Lloyd JK, Ames JAL. Stomatocytosis, abnormal platelets and pseudo-homozygous hypercholesterolaemia. Eur J Haematol. 1987;38:376–380
  58. Slappendel RJ, Van der Gaag I, Van Nes JJ, Van den Ingh TSGAM, Happé RP. Familial stomatocytosis hypertrophic gastritis (FSHG), a newly recognised disease in the dog (Drentse patrijshond). Vet Q. 1991;13:30–40
  59. Slappendel RJ, Renooij W, de Bruijne JJ. Normal cations and abnormal membrane lipids in the red blood cells of dogs with familial stomatocytosis-hypertrophic gastritis. Blood. 1994;84:904–909

 Supported by the Institut National de la Santé et de la Recherche Médicale (Unité 473).

PII: S0037-1963(04)00033-2

doi: 10.1053/j.seminhematol.2004.02.005

Seminars in Hematology
Volume 41, Issue 2 , Pages 165-172 , April 2004