Hereditary Spherocytosis - Defects in Proteins That Connect the Membrane Skeleton to the Lipid Bilayer

Seminars in Hematology

Volumn 41, Issue 2, 2004, Pages 118-141

  Eber, Stefan ^a   Lux, Samuel E ^b  

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ANKYRIN; ERYTHROCYTE BAND 3 PROTEIN; ERYTHROCYTE BAND 4.2 PROTEIN; FODRIN; MEMBRANE PROTEIN; MUTANT PROTEIN; SPECTRIN;

ALLELE; ANEMIA; CLINICAL FEATURE; CYTOSKELETON; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; DISEASE SEVERITY; DOMINANT INHERITANCE; ERYTHROCYTE DISORDER; FRAMESHIFT MUTATION; GALLSTONE; GENETIC POLYMORPHISM; HEMOLYSIS; HETEROZYGOSITY; HUMAN; LEG ULCER; LIPID BILAYER; MEMBRANE VESICLE; MOLECULAR DYNAMICS; NONHUMAN; NONSENSE MUTATION; PATHOGENESIS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DEFECT; PROTEIN DOMAIN; RECESSIVE INHERITANCE; REVIEW; SPHEROCYTOSIS; SPLEEN; SPLENECTOMY; TREATMENT CONTRAINDICATION; TREATMENT INDICATION; UNTRANSLATED REGION;

EID: 1942509531     PISSN: 00371963     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.seminhematol.2004.01.002     Document Type: Article

References (125)

1. Vanlair CF, Masius JB: De la microcythémie. Bull R Acad Med Belg 5:515-613, 1871
2. Miraglia del Giudice E, Lombardi C, Francese M, et al: Frequent de novo monoallelic expression of β-spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency. Br J Haematol 101:251-254, 1998
3. Özcan R, Kugler W, Feuring-Buske M, et al: Parental mosaicism for ankyrin-1 mutations in two families with hereditary spherocytosis. Blood 90:4a, 1997 (suppl, abstr)
4. Basseres DS, Duarte AS, Hassoun H, et al: β-Spectrin S(ta) Barbara: A novel frameshift mutation in hereditary spherocytosis associated with detectable levels of mRNA and a germ cell line mosaicism. Br J Haematol 115:347-353, 2001
5. Eber SW, Armbrust R, Schroter W: Variable clinical severity of hereditary spherocytosis: Relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis. J Pediatr 117:409-416, 1990
6. Miraglia del Giudice E, Nobili B, Francese M, et al: Clinical and molecular evaluation of non-dominant hereditary spherocytosis. Br J Haematol 112:42-47, 2001
7. Agre P, Orringer EP, Bennett V: Deficient red-cell spectrin in severe, recessively inherited spherocytosis. N Engl J Med 306:1155-1161, 1982
8. Wichterle H, Hanspal M, Palek J, et al: Combination of two mutant α-spectrin alleles underlies a severe spherocytic hemolytic anemia. J Clin Invest 98:2300-2307, 1996
9. Ribeiro ML, Alloisio N, Almeida H, et al: Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3. Blood 96:1602-1604, 2000
10. Perrotta S, Nigro V, Iolascon A, et al: Dominant hereditary spherocytosis due to band 3 Neapolis produces a life-threatening anemia at the homozygous state. Blood 92:9, 1998 (abstr)
11. Chilcote RR, Le Beau MM, Dampier C, et al: Association of red cell spherocytosis with deletion of the short arm of chromosome 8. Blood 69:156-159, 1987
12. Lux S, Tse W, Menninger J, et al: Hereditary spherocytosis associated with deletion of the human erythrocyte ankyrin gene on chromosome 8. Nature 345:736-739, 1990
13. Fukushima Y, Byers MG, Watkins PC, et al: Assignment of the gene for β spectrin (SPTB) to chromosome 14q23-q24.2 by situhybridization. Cytogenet Cell Genet 53:232-233, 1990
14. Palek J, Lambert S: Genetics of the red cell membrane skeleton. Semin Hematol 27:290-332, 1990
15. Friedman EW, Williams JC, Van Hook L: Hereditary spherocytosis in the elderly. Am J Med 84:513-516, 1988
16. Krueger HC, Burgert EOJ: Hereditary spherocytosis in 100 children. Mayo Clin Proc 41:554-567, 1966
17. Jensson O, Jonasson JL, Magnusson S: Studies on hereditary spherocytosis in Iceland. Acta Med Scand 201:187-195, 1977
18. Koepke JF, Koepke JA: Reticulocytes. Clin Lab Haematol 8:169-179, 1986
19. Guarnone R, Centenara E, Zappa M, et al: Erythropoietin production and erythropoiesis in compensated and anaemic states of hereditary spherocytosis. Br J Haematol 92:150-154, 1996
20. Pajor A, Lehoczky D, Szakacs Z: Pregnancy and hereditary spherocytosis. Report of 8 patients and a review. Arch Gynecol Obstet 253:37-42, 1993
21. Agre P, Casella JF, Zinkham WH, et al: Partial deficiency of erythrocyte spectrin in hereditary spherocytosis. Nature 314:308-383, 1985
22. Coetzer TL, Lawler J, Liu SC, et al: Partial ankyrin and spectrin deficiency in severe, atypical hereditary spherocytosis. N Engl J Med 318:230-234, 1988
23. Agre P, Asimos A, Casella JF, et al: Inheritance pattern and clinical response to splenectomy as a reflection of erythrocyte spectrin deficiency in hereditary spherocytosis. N Engl J Med 315:1579-1583, 1986
24. Godal HC, Heist H: High prevalence of increased osmotic fragility of red blood cells among Norwegian donors. Scand J Haematol 27:30-34, 1981
25. Eber SW, Pekrun A, Neufeldt A, et al: Prevalence of increased osmotic fragility of erythrocytes in German blood donors: Screening using a modified glycerol lysis test. Ann Hematol 64:88-92, 1992
26. Maberry MC, Mason RA, Cunningham FG, et al: Pregnancy complicated by hereditary spherocytosis. Obstet Gynecol 79:735-738, 1992
27. Iolascon A, Faienza MF, Moretti A, et al: UGT1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis. Blood 91:1093, 1998 (letter)
28. Delhommeau F, Cynober T, Schischmanoff PO, et al: Natural history of hereditary spherocytosis during the first year of life. Blood 95:393-397, 2000
29. Tchernia G, Delhommeau F, Perrotta S, et al: Recombinant erythropoietin therapy as an alternative to blood transfusions in infants with hereditary spherocytosis. BJH 1:146-152, 2000
30. Young N: Hematologic and hematopoietic consequences of B19 parvovirus infection. Semin Hematol 25:159-172, 1988
31. Pekrun A, Eiffert H, Eber SW, et al: Aplastische Krisen bei hereditärer Sphärozytose. Monatsschr Kinderheilkd 136:173-175, 1988
32. Peter G: Parvovirus B19, in Red Book: Report of the Committee on Infectious Diseases (ed 24). Elk Grove Village, IL, American Academy of Pediatrics, 1997, p 383
33. Malinow M, Duell PB, Hess DL, et al: Reduction of plasma homocyst(e)ine levels by breakfast cereal fortified with folic acid in patients with coronary heart disease. N Engl J Med 338:1009-1015, 1998
34. Bosma PJ, Chowdhury JR, Bakker C, et al: The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med 333:1171-1175, 1995
35. Miraglia del Giudice E, Perrotta S, Nobili B, et al: Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis. Blood 92:470a, 1998 (suppl, abstr)
36. Marchetti M, Quaglini S, Barosi G: Prophylactic splenectomy and cholecystectomy in mild hereditary spherocytosis: Analyzing the decision in different clinical scenarios. J Intern Med 244:217-226, 1998
37. Michaels LA, Cohen AR, Zhao H, et al: Screening for hereditary spherocytosis by use of automated erythrocyte indexes. J Pediatr 130:957-960, 1997
38. Mohandas N, Kim YR, Tycko DH, et al: Accurate and independent measurement of volume and hemoglobin concentration of individual red cells by laser light scattering. Blood 68:506-513, 1986
39. Cynober T, Mohandas N, Tchernia G: Red cell abnormalities in hereditary spherocytosis: relevance to diagnosis and understanding of the variable expression of clinical severity. J Lab Clin Med 128:259-269, 1996
40. Chasis JA, Agre P, Mohandas N: Decreased membrane mechanical stability and in vivo loss of surface area reflect spectrin deficiencies in hereditary spherocytosis. J Clin Invest 82:617-623, 1988
41. Clark MR, Mohandas N, Shohet SB: Osmotic gradient ektacytometry: Comprehensive characterization of red cell volume and surface maintenance. Blood 61:899-910, 1983
42. Schröter W, Kahsnitz E: Diagnosis of hereditary spherocytosis in newborn infants. J Pediatr 103:460-463, 1983
43. Zanella A, Izzo C, Rebulla P, et al: Acidified glycerol lysis test: A screening test for spherocytosis. Br J Haematol 45:481-486, 1980
44. Savvides P, Shalev O, John KM, et al: Combined spectrin and ankyrin deficiency is common in autosomal dominant hereditary spherocytosis. Blood 82:2953-2960, 1993
45. Pekrun A, Eber SW, Kuhlmey A, et al: Combined amkyrin and spectrin deficiency in hereditary spherocytosis. 67:89-93, 1993
46. Byers PH: Killing the messenger: New insights into non-sense-mediated mRNA decay. J Clin Invest 109:3-6, 2002
47. Jarolim P, Rubin HL, Brabec V, et al: Comparison of the ankyrin (AC)n microsatellites in genomic DNA and mRNA reveals absence of one ankyrin mRNA allele in 20% of patients with hereditary spherocytosis. Blood 85:3278-3282, 1995
48. Özcan R, Jarolim P, Lux SE, et al: Simultaneous (AC)n microsatellite polymorphism analysis and SSCP screening is an efficient strategy for detecting ankyrin-1 mutations in dominant hereditary spherocytosis. BrJ Haematol 122:669-677, 2003
49. Miraglia del Giudice E, Francese M, Nobili B, et al: High frequency of de novo mutations in ankyrin gene (ANK1) in children with hereditary spherocytosis. J Pediatr 132:117-120, 1998
50. Eber SW, Gonzalez JM, Lux ML, et al: Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. Nature Genet 13:214-218, 1996
51. Eber SW, Langendorfer CM, Ditzig M, et al: Frequency of very late fatal sepsis after splenectomy for hereditary spherocytosis: Impact of insufficient antibody response to pneumococcal infection. Ann Hematol 78:524-528, 1999
52. Green JB, Shackford SR, Sise MJ, et al: Late septic complications in adults following splenectomy for trauma: A prospective analysis in 144 patients. J Trauma 26:999-1004, 1986
53. Hansen K, Singer DB: Asplenic-hyposplenic overwhelming sepsis: Postsplenectomy sepsis revisited. Pediatr Dev Pathol 4:105-121, 2001
54. Holdsworth RJ, Irving AD, Cuschieri A: Postsplenectomy sepsis and its mortality rate: Actual versus perceived risks. Br J Surg 78:1031-1038, 1991
55. Schwartz PE, Sterioff S, Mucha P, et al: Postsplenectomy sepsis and mortality in adults. JAMA 248:2279-2283, 1982
56. Schilling RF: Estimating the risk for sepsis after splenectomy in hereditary spherocytosis. Ann Intern Med 122:187-188, 1995
57. Schilling RF: Spherocytosis, splenectomy, strokes, and heat attacks. Lancet 350:1677-1678, 1997
58. Robinette CD, Fraumeni JFJ: Splenectomy and subsequent mortality in veterans of the 1939-45 war. Lancet 2:127, 1977
59. Bader-Meunier B, Gauthier F, Archambaud F, et al: Long-term evaluation of the beneficial effect of subtotal splenectomy for management of hereditary spherocytosis. Blood 97:399-403, 2001
60. de Buys Roessingh AS, de Lagausie P, Rohrlich P, et al: Follow-up of partial splenectomy in children with hereditary spherocytosis. J Pediatr Surg 37:1459-1463, 2002
61. Eber SW, Bolkenius M, Heidemann P, et al: Subtotale Splenektomie bei hereditarer Spharozytose im Kindesalter. Chir Gastroenterol 17:12-17, 2001 (suppl)
62. Rice HE, Oldham KT, Hillery: CA, et al: Clinical and hematologic benefits of partials splenectomy for congenital hemolytic anemias in children. Ann Surg 237:281-288, 2003
63. Tchernia G, Gauthier F, Mielot F, et al: Initial assessment of the beneficial effect of partial splenectomy in hereditary spherocytosis. Blood 81:2014-2020, 1993
64. Katkhouda N, Hurwitz MB, Rivera RT, et al: Laparoscopic splenectomy: Outcome and efficacy in 103 consecutive patients. Ann Surg 228:568-578, 1998
65. Eber SW, Belohradsky BH, Weiss M: Infektionsprophylaxe bei Asplenie. Klin Pädiatrie 213 Sonderheft 1:1-4, 2001
66. Walensky LD, Narla M, Lux SE: Disorders of the red blood cell membrane, in Handin RI, Lux SE, Stossel TP (eds): Blood: Principles and Practice of Hematology (ed 2). Philadelphia, PA, Lippincott Williams & Wilkins, 2003, pp 1709-1858
67. Yawata Y: Hereditary spherocythosis, in Cell Membrane. Weinheim, Germany, Wiley-VCH, 2003, pp 173-212
68. Lanciotti M, Perutelli P, Valetto A, et al: Ankyrin deficiency is the most common defect in dominant and non dominant hereditary spherocytosis. Haematologica 82:460-462, 1997
69. Saad ST, Costa FF, Vicentim DL, et al: Red cell membrane protein abnormalities in hereditary spherocytosis in Brazil. Br J Haematol 88:295-299, 1994
70. Yawata Y, Kanzaki A, Yawata A, et al: Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population. Int J Hematol 71:118-135, 2000
71. Miraglia del Giudice EM, Hayette S, Bozon M, et al: Ankyrin Napoli: A de novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis. Br J Haematol 93:828-834, 1996
72. Randon J, Miraglia del Giudice E, Bozon M, et al: Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis: Three new ANK1 variants: Ankyrins Bari, Napoli II and Anzio. Br J Haematol 96:500-506, 1997
73. Woods CM, Lazarides E: Spectrin assembly in avian erythroid development is determined by competing reactions of subunit homo- and hetero-oligomerization. Nature 321:85-89, 1986
74. Jarolim P, Rubin HL, Brabec V, et al: A nonsense mutation 1669Glu→Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis. J Clin Invest 95:941-947, 1995
75. Gallagher PG, Nilson DG, Wong C, et al: A two base pair deletion at position -72/-73 of the ankyrin-1 promoter associated with hereditary spherocytosis disrupts TFIID complex binding and decreases transcription of a linked reporter gene. Blood 100:77, 2002 (suppl, abstr)
76. Weisbein JL, Wong C, Cline AP, et al: Mutations at positions - 108 and - 153 of the erythroid ankyrin promoter decrease expression in transgenic mice by disrupting insular function. Blood 100:78, 2002 (suppl, abstr)
77. Eber SW, Pekrun A, Reinhardt D, et al: Hereditary spherocytosis with ankyrin Walsrode, a variant ankyrin with decreased affinity for band 3. Blood 84:362a, 1994 (suppl, abstr)
78. Dhermy D, Galand C, Bournier O, et al: Heterogenous band 3 deficiency in hereditary spherocytosis related to different band 3 gene defects. BrJ Haematol 98:32-40, 1997
79. Jarolim P, Rubin HL, Brabec V, et al: Mutations of conserved arginines in the membrane domain of erythroid band 3 lead to a decrease in membrane-associated band 3 and to the phenotype of hereditary spherocytosis. Blood 85:634-640, 1995
80. Jarolim P, Rubin HL, Liu SC, et al: Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3 PRAGUE). J Clin Invest 93:121-130, 1994
81. Vince JW, Reithmeier RA: Carbonic anhydrase II binds to the carboxyl terminus of human band 3, the erythrocyte C1-/HCO3-exchanger. J Biol Chem 273:28430-28437, 1998
82. Kanzaki A, Hayette S, Morle L, et al: Total absence of protein 4.2 and partial deficiency of band 3 in hereditary spherocytosis. Br J Haematol 99:522-530, 1997
83. Peters LL, Shivdasani RA, Liu SC, et al: Anion exchanger 1 (band 3) is required to prevent erythrocyte membrane surface loss but not to form the membrane skeleton. Cell 86:917-927, 1996
84. Jarolim P, Murray JL, Rubin HL, et al: Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency. Blood 88:4366-4374, 1996
85. Rysava R, Tesar V, Jirsa MJ, et al: Incomplete distal renal tubular acidosis coinherited with a mutation in the band 3 (AE1) gene. Nephrol Dial Transplant 12:1869-1873, 1997
86. + countertransport and an abnormal renal bicarbonate handling. Blood 90:2810-2818, 1997
87. Jarolim P, Shayakul C, Prabakaran D, et al: Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3-exchanger. J Biol Chem 273:6380, 1998
88. Bruce LJ, Cope DL, Jones GK, et al: Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. J Clin Invest 100:1693-1707, 1997
89. Inaba M, Yawata A, Koshino I, et al: 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 97:1804-1817, 1996
90. Karet FE, Gainza FJ, Gyory AZ, et al: Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. Proc Natl Acad Sci USA 95:6337-6342, 1998
91. Palek J, Jarolim P: Clinical expression and laboratory detection of red blood cell membrane protein mutations. Semin Hematol 30:249-283, 1993
92. Rybicki AC, Heath R, Wolf JL, et al: Deficiency of protein 4.2 in erythrocytes from a patient with a Coombs negative hemolytic anemia. Evidence for a role of protein 4.2 in stabilizing ankyrin on the membrane. J Clin Invest 81:893-901, 1988
93. Lombardo CR, Willardson BM, Low PS: Localization of the protein 4.1-binding site on the cytoplasmic domain of erythrocyte membrane band 3. J Biol Chem 267:9540-9546, 1992
94. Waugh RE, Agre P: Reductions of erythrocyte membrane viscoelastic coefficients reflect spectrin deficiencies in hereditary spherocytosis. J Clin Invest 81:133-141, 1988
95. Hanspal M, Yoon SH, Yu H, et al: Molecular basis of spectrin and ankyrin deficiencies in severe hereditary spherocytosis: Evidence implicating a primary defect of ankyrin. Blood 77:165-173, 1991
96. Tse WT, Gallagher PG, Jenkins PB, et al: Amino-acid substitution in α-spectrin commonly coinherited with nondominant hereditary spherocytosis. Am J Hematol 54:233-241, 1997
97. Jarolim P, Wichterle H, Palek J, et al: The low expression α-spectrin LEPRA is frequently associated with autosomal recessive/nondominant hereditary spherocytosis. Blood 88:4a, 1996 (suppl, abstr)
98. Hassoun H, Vassiliadis JN, Murray J, et al: Molecular basis of spectrin deficiency in β-spectrin Durham. A deletion within β-spectrin adjacent to the ankyrin-binding site precludes spectrin attachment to the membrane in hereditary spherocytosis. J Clin Invest 96:2623-2629, 1995
99. Becker PS, Tse WT, Lux SE, et al: β-Spectrin Kissimmee: A spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1. J Clin Invest 92:612-616, 1993
100. Wolfe LC, John KM, Falcone JC, et al: A genetic defect in the binding of protein 4.1 to spectrin in a kindred with hereditary spherocytosis. N Engl J Med 307:1367-1374, 1982
101. Hassoun H, Vassiliadis JN, Murray J, et al: Characterization of the underlying molecular defect in hereditary spherocytosis associated with spectrin deficiency. Blood 90:398-406, 1997
102. Cooper RA, Jandl JH: The role of membrane lipids in the survival of red cells in hereditary spherocytosis. J Clin Invest 48:736-744, 1969
103. Liu SC, Derick LH, Duquette MA, et al: Separation of the lipid bilayer from the membrane skeleton during discocyteechinocyte transformation of human erythrocyte ghosts. Eur J Cell Biol 49:358-365, 1989
104. Zachee P, Boogaerts MA, Hellamans L, et al: Adverse role of the spleen in hereditary spherocytosis: Evidence by the use of the atomic force microscope. BrJ Haematol 80:264-265, 1992
105. Da Costa L, Mohandas N, Sorette M, et al: Temporal differences in membrane loss lead to distinct reticulocyte features in hereditary spherocytosis and in immune hemolytic anemia. Blood 98:2894-2899, 2001
106. Corbett JD, Agre P, PalekJ, et al: Differential control of band 3 lateral and rotational mobility in intact red cells. J Clin Invest 94:683-688, 1994
107. Cho MR, Eber SW, Liu SC, et al: Regulation of band 3 rotational mobility by ankyrin in intact human red cells. Biochemistry 37:17828-17835, 1998
108. Reinhardt D, Witt O, Miosge N, et al: Increase in band 3 density and aggregation in hereditary spherocytosis. Blood Cells Mol Dis 27:399-406, 2001
109. Weiss L: A scanning electron microscopic study of the spleen. Blood 43:665-691, 1974
110. Groom AC: Microcirculation of the spleen: New concepts, new challenges. Microvasc Res 34:269-289, 1987
111. Fujino T, Ishikawa T, Inoue M, et al: Characterization of membrane-bound serine protease related to degradation of oxidatively damaged erythrocyte membrane proteins. Biochim Biophys Acta 1374:47-55, 1998
112. Coleman DH, Finch CA: Effect of adrenal steroids in hereditary spherocytic anemia. J Lab Clin Med 47:602-610, 1956
113. Reliene R, Mariani M, Zanella A, et al: Splenectomy prolongs in vivo survival of erythrocytes differently in spectrin/ankyrin- and band 3-deficient hereditary spherocytosis. Blood 100:2208-2215, 2002
114. Peters LL, Barker JE: Spontaneous and targeted mutations in erythrocyte membrane skeleton genes: Mouse models of hereditary spherocytosis, in Zon LI (ed): Hematopoiesis, a Developmental Approach. Oxford, UK, Oxford University Press, 2001, pp 582-609
115. Wandersee N, Birkenmeier C, Bodine D, et al: Mutations in the murine erythroid α-spectrin gene alter spectrin mRNA and protein levels and spectrin incorporation into the red blood cell membrane skeleton. Blood 101:325-330, 2003
116. Kaysser TM, Wandersee NJ, Bronson RT, et al: Thrombosis and secondary hemochromatosis play major roles in the pathogenesis of jaundiced and spherocytic mice, murine models for hereditary spherocytosis. Blood 90:4610-4619, 1997
117. Wandersee NJ, Lee JC, Kaysser TM, et al: Hematopoietic cells from α-spectrin-deficient mice are sufficient to induce thrombotic events in hematopoietically ablated recipients. Blood 92:4856-4863, 1998
118. Bodine DM, Birkenmeier CS, Barker JE: Spectrin deficient inherited hemolytic anemias in the mouse: Characterization by spectrin synthesis and mRNA activity in reticulocytes. Cell 40:959-969, 1984
119. Peters LL, Turtzo LC, Birkenmeier CS, et al: Distinct fetal Ank-1 and Ank-2 related proteins and mRNAs in normal and nb/nb mice. Blood 81:2144-2149, 1993
120. Peters LL, Birkenmeier CS, Bronson RT, et al: Purkinje cell degeneration associated with erythroid ankyrin deficiency in nb/nb mice. J Cell Biol 114:1233-1241, 1991
121. Hassoun H, Wang Y, Vassiliadis J, et al: Targeted inactivation of murine band 3 (AE1) gene produces a hypercoagulable state causing widespread thrombosis in vivo. Blood 92:1785, 1998
122. Peters LL, Andersen SG, Gwynn B, et al: A nQTL on mouse chromosome 12 modifies the band 3 null phenotype: β spectrin is a candidate gene. Blood 98:437a, 2001 (suppl, abstr)
123. Paw BH, Zhou Y, Li R, et al: Cloning of the zebrafish retsina blood mutation: Mutations in erythroid band 3 in dyserythropoiesis and cytokinesis defects. Blood 96:440a, 2000 (suppl, abstr)
124. Liao EC, Paw BH, Peters LL, et al: Hereditary spherocytosis in zebrafish riesling illustrates evolution of erythroid β-spectrin structure, and function in red cell morphogenesis and membrane stability. Development 127:5123-5132, 2000
125. Shafizadeh E, Paw B, Foott H, et al: Characterization of zebrafish merlot/chablis as non-mammalian vertebrate models for severe congenital anemia due to protein 4.1 deficiency. Development 129:4359-4370, 2002