Management of sickle cell disease

New England Journal of Medicine

Volumn 340, Issue 13, 1999, Pages 1021-1030

  Steinberg, Martin H ^a,b  

^a UNIVERSITY OF MISSISSIPPI SCHOOL OF MEDICINE   (United States)

^b VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HEMOGLOBIN S; HYDROXYUREA;

BLOOD TRANSFUSION; BONE MARROW TRANSPLANTATION; CELL SURVIVAL; CLINICAL FEATURE; DRUG EFFECT; ENDOTHELIUM CELL; PATHOPHYSIOLOGY; PRIORITY JOURNAL; RETICULOCYTE COUNT; REVIEW; SICKLE CELL ANEMIA;

EID: 0033118835     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199904013401307     Document Type: Review

References (103)

1. Heller P, Best WR, Nelson RB, Becktel J. Clinical implications of sickle cell trait and glucose-6-phosphate dehydrogenase deficiency in hospitalized black male patients. N Engl J Med 1979;300:1001-5.
2. Sears DA. The morbidity of sickle cell trait: a review of the literature. Am J Med 1978;64:1021-36.
3. Cao ZQ, Ferrone FA. A 50th order reaction predicted and observed for sickle hemoglobin nucleation. J Mol Biol 1996;256:219-22.
4. Bertles JF, Milner PFA. Irreversibly sickled erythrocytes: a consequence of heterogeneous distribution of hemoglobin types in sickle-cell anemia. J Clin Invest 1968;47:1731-41.
5. Brugnara C, Bunn HF, Tosteson DC. Regulation of erythrocyte cation and water content in sickle cell anemia. Science 1986;232:388-90.
6. Fabry ME, Romero JR, Buchanan ID, et al. Rapid increase in red blood cell density driven by K:Cl cotransport in a subset of sickle cell anemia reticulocytes and discocytes. Blood 1991;78:217-25.
7. Sugihara T, Hebbel RP. Exaggerated cation leak from oxygenated sickle red blood cells during deformation: evidence for unique leak pathway. Blood 1992;80:2374-8.
8. Joiner CH. Cation transport and volume regulation in sickle red blood cells. Am J Physiol Cell Physiol 1993;264:C251-C270.
9. Hebbel RP, Yamada O, Moldow CF, Jacob HS, White JG, Eaton JW. Abnormal adherence of sickle erythrocytes to cultured vascular endothelium: possible mechanism for microvascular occlusion in sickle cell disease. J Clin Invest 1980;65:154-60.
10. Setty BNY, Chen D, Stuart MJ. Sickle cell vaso-occlusive crisis is associated with abnormalities in the ratio of vasoconstrictor to vasodilator prostanoids. Pediatr Res 1995;38:95-102.
11. Platt OS, Brambilla DJ, Rosse WF, et al. Mortality in sickle cell disease: life expectancy and risk factors for early death. N Engl J Med 1994;330: 1639-44.
12. Dias-Da-Motta PM, Arruda VR, Muscará MN, et al. The release of nitric oxide and superoxide anion by neutrophils and mononuclear cells from patients with sickle cell anaemia. Br J Haematol 1996;93:333-40.
13. Hofstra TC, Kalra VK, Meiselman HJ, Coates TD. Sickle erythrocytes adhere to polymorphonuclear neutrophils and activate the neutrophil respiratory burst. Blood 1996;87:4440-7.
14. Brittain HA, Eckman JR, Swerlick RA, Howard RJ, Wick TM. Thrombospondin from activated platelets promotes sickle erythrocyte adherence to human microvascular endothelium under physiologic flow: a potential role for platelet activation in sickle cell vaso-occlusion. Blood 1993;81:2137-43.
15. + sickle reticulocytes to endothelial cells. Blood 1992;80:2634-42.
16. Wick TM, Moake JL, Udden MM, McIntire LV. Unusually large von Willebrand factor multimers preferentially promote young sickle and nonsickle erythrocyte adhesion to endothelial cells. Am J Hematol 1993;42:284-92.
17. Gee BE, Platt OS. Sickle reticulocytes adhere to VCAM-1. Blood 1995;85:268-74.
18. Bunn HF. Pathogenesis and treatment of sickle cell disease. N Engl J Med 1997;337:762-9.
19. The sickle cell information center. Atlanta: Emory University School of Medicine, 1998. (See www.emory.edu/PEDS/SICKLE.)
20. Joint Center for Sickle Cell and Thalassemic Disorders: Brigham & Women's Hospital, Massachusetts General Hospital. Boston: Brigham & Women's Hospital, 1998. (See http://cancer.mgh.harvard.edu/medONC/ sickle.htm.)
21. Division of Blood Diseases and Resources. Management and therapy of sickle cell disease. 3rd ed. Rev. Bethesda, Md.: National Heart, Lung, and Blood Institute, December 1995. (NIH publication no. 95-2117.)
22. Gaston MH, Verter JI, Woods G, et al. Prophylaxis with oral penicillin in children with sickle cell anemia. N Engl J Med 1986;314:1593-9.
23. Vichinsky E, Hurst D, Earles A, Kleman K, Lubin B. Newborn screening for sickle cell disease: effect on mortality. Pediatrics 1988;81: 749-55.
24. Falletta JM, Woods GM, Verter JI, et al. Discontinuing penicillin prophylaxis in children with sickle cell anemia: Prophylactic Penicillin Study II. J Pediatr 1995;127:685-90.
25. Embury SH, Hebbel RP, Mohandas N, Steinberg MH, eds. Sickle cell disease: basic principles and clinical practice. New York: Raven Press, 1994.
26. Pegelow CH, Colangelo L, Steinberg M, et al. Natural history of blood pressure in sickle cell disease: risks for stroke and death associated with relative hypertension in sickle cell anemia. Am J Med 1997;102:171-7.
27. Chesney PJ, Wilimas JA, Presbury G, et al. Penicillin-and cephalosporin-resistant strains of Streptococcus pneumoniae causing sepsis and meningitis in children with sickle cell disease. J Pediatr 1995;127:526-32.
28. Ahman H, Kayhty H, Tamminen P, Vuorela A, Malinoski F, Eskola J. Pentavalent pneumococcal oligosaccharide conjugate vaccine PncCRM is well-tolerated and able to induce an antibody response in infants. Pediatr Infect Dis J 1996;15:134-9.
29. O'Brien KL, Winkelstein JA, Santosham M, et al. Immunogenicity of a pneumococcal protein conjugate vaccine in infants with sickle cell disease. Pediatr Res 1996;39:Suppl:160A. abstract.
30. Buchanan GR, Smith SJ. Pneumococcal septicemia despite pneumococcal vaccine and prescription of penicillin prophylaxis in children with sickle cell anemia. Am J Dis Child 1986;140:428-32.
31. Kark JA, Ward FT. Exercise and hemoglobin S. Semin Hematol 1994; 31:181-225.
32. Platt OS, Thorington BD, Brambilla DJ, et al. Pain in sickle cell disease: rates and risk factors. N Engl J Med 1991;325:11-6.
33. Ballas SK. Neurobiology and treatment of pain. In: Embury SH, Hebbel RP, Mohandas N, Steinberg MH, eds. Sickle cell disease: basic principles and clinical practice. New York: Raven Press, 1994:745-72.
34. Steinberg MH. Erythropoietin for anemia of renal failure in sickle cell disease. N Engl J Med 1991;324:1369-70.
35. Vichinsky EP, Haberkern CM, Neumayr L, et al. A comparison of conservative and aggressive transfusion regimens in the perioperative management of sickle cell disease. N Engl J Med 1995;333:206-13.
36. Koshy M, Burd L, Wallace D, Moawad A, Baron J. Prophylactic red-cell transfusions in pregnant patients with sickle cell disease: a randomized cooperative study. N Engl J Med 1988;319:1447-52.
37. Cohen AR, Martin MB, Silber JH, Kim HC, Ohene-Frempong K, Schwartz E. A modified transfusion program for prevention of stroke in sickle cell disease. Blood 1992;79:1657-61.
38. Adams RJ, McKie VC, Hsu L, et al. Prevention of a first stroke by transfusions in children with sickle cell anemia and abnormal results on transcranial Doppler ultrasonography. N Engl J Med 1998;339:5-11.
39. Vichinsky EP, Earles A, Johnson RA, Hoag MS, Williams A, Lubin B. Alloimmunization in sickle cell anemia and transfusion of racially unmatched blood. N Engl J Med 1990;322:1617-21.
40. DeSimone J, Heller P, Hall L, Zwiers D. 5-Azacytidine stimulates fetal hemoglobin synthesis in anemic baboons. Proc Natl Acad Sci U S A 1982; 79:4428-31.
41. Ley TJ, DeSimone J, Noguchi CT, et al. 5-Azacytidine increases gamma-globin synthesis and reduces the proportion of dense cells in patients with sickle cell anemia. Blood 1983;62:370-80.
42. Platt OS, Orkin SH, Dover G, Beardsley GP, Miller B, Nathan DG. Hydroxyurea enhances fetal hemoglobin production in sickle cell anemia. J Clin Invest 1984;74:652-6.
43. Rodgers GP, Dover GJ, Noguchi CT, Schechter AN, Nienhuis AW. Hematologic responses of patients with sickle cell disease to treatment with hydroxyurea. N Engl J Med 1990;322:1037-45.
44. el-Hazmi MAF, Warsy AS, al-Momen A, Harakati M. Hydroxyurea for the treatment of sickle cell disease. Acta Haematol 1992;88:170-4.
45. Charache S, Terrin ML, Moore RD, et al. Effect of hydroxyurea on the frequency of painful crises in sickle cell anemia. N Engl J Med 1995; 332:1317-22.
46. Charache S, Barton FB, Moore RD, et al. Hydroxyurea and sickle cell anemia - clinical utility of a myelosuppressive "switching" agent: the Multicenter Study of Hydroxyurea in Sickle Cell Anemia. Medicine (Baltimore) 1996;75:300-26.
47. Hackney AC, Hezier W, Gulledge TP, et al. Effects of hydroxyurea administration on the body weight, body composition and exercise performance of patients with sickle-cell anaemia. Clin Sci (Colch) 1997;92:481-6.
48. Styles LA, Lubin B, Vichinsky E, et al. Decrease of very late activation antigen-4 and CD36 on reticulocytes in sickle cell patients treated with hydroxyurea. Blood 1997;89:2554-9.
49. Adragna NC, Fonseca P, Lauf PK. Hydroxyurea affects cell morphology, cation transport, and red blood cell adhesion in cultured vascular endothelial cells. Blood 1994;83:553-60.
50. Bridges KR, Barabino GD, Brugnara C, et al. A multiparameter analysis of sickle erythrocytes in patients undergoing hydroxyurea therapy. Blood 1996;88:4701-10.
51. Charache S. Eye disease in sickling disorders. Hematol Oncol Clin North Am 1996;10:1357-62.
52. Steinberg MH, Nagel RL, Brugnara C. Cellular effects of hydroxyurea in Hb SC disease. Br J Haematol 1997;98:838-44.
53. Steinberg MH, Lu Z-H, Barton FB, Terrin ML, Charache S, Dover GJ. Fetal hemoglobin in sickle cell anemia: determinants of response to hydroxyurea: Multicenter Study of Hydroxyurea. Blood 1997;89:1078-88.
54. de Montalembert M, Belloy M, Bernaudin F, et al. Clinical and hematological response of sickle cell children to treatment with hydroxyurea. Blood 1994;84:Suppl 1:219A. abstract.
55. Scott JP, Hillery CA, Brown ER, Misiewicz V, Labotka RJ. Hydroxyurea therapy in children severely affected with sickle cell disease. J Pediatr 1996;128:820-8.
56. Jayabose S, Tugal O, Sandoval C, et al. Clinical and hematologic effects of hydroxyurea in children with sickle cell anemia. J Pediatr 1996;129:559-65.
57. Ferster A, Vermylen C, Cornu G, et al. Hydroxyurea for treatment of severe sickle cell anemia: a pediatric clinical trial. Blood 1996;88:1960-4.
58. 32P alone or in combination with maintenance therapy using hydroxyurea in 461 patients greater than 65 years of age. Blood 1997;89:2319-27.
59. Nand S, Stock W, Godwin J, Fisher SG. Leukemogenic risk of hydroxyurea therapy in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Am J Hematol 1996;52:42-6.
60. Triadou P, Maier-Redelsperger M, Krishnamoorty R, et al. Fetal haemoglobin variations following hydroxyurea treatment in patients with cyanotic congenital heart disease. Nouv Rev Fr Hematol 1994;36:367-72.
61. Claster S, Vichinsky E. First report of reversal of organ dysfunction in sickle cell anemia by the use of hydroxyurea: splenic regeneration. Blood 1996;88:1951-3.
62. Ferster A, Bujan W, Corazza F, et al. Bone marrow transplantation corrects the splenic reticuloendothelial dysfunction in sickle cell anemia. Blood 1993;81:1102-5.
63. Campbell PJ, Olatunji PO, Ryan KE, Davies SC. Splenic regrowth in sickle cell anaemia following hypertransfusion. Br J Haematol 1997;96:77-9.
64. Voskaridou E, Kalotychou V, Loukopoulos D. Clinical and laboratory effects of long-term administration of hydroxyurea to patients with sickle-cell/β-thalassaemia. Br J Haematol 1995;89:479-84.
65. Loukopoulos D. Current status of thalassemia and the sickle cell syndromes in Greece. Semin Hematol 1996;33:76-86.
66. el-Hazmi MAF, al-Momen A, Kandaswamy S, et al. On the use of hydroxyurea/erythropoietin combination therapy for sickle cell disease. Acta Haematol 1995;94:128-34.
67. Vermylen C, Fernandez Robles E, Ninane J, Cornu G. Bone marrow transplantation in five children with sickle cell anaemia. Lancet 1988;1: 1427-8.
68. Kirkpatrick DV, Barrios NJ, Humbert JH. Bone marrow transplantation for sickle cell anemia. Semin Hematol 1991;28:240-3.
69. Thomas ED. The pros and cons of bone marrow transplantation for sickle cell anemia. Semin Hematol 1991;28:260-2.
70. Piomelli S. Bone marrow transplantation in sickle cell diseases: a plea for a rational approach. Bone Marrow Transplant 1992;10:Suppl 1:58-61.
71. Weatherall D. Bone marrow transplantation for thalassemia and other inherited disorders of hemoglobin. Blood 1992;80:1379-81.
72. Vermylen C, Cornu G. Bone marrow transplantation in sickle cell anaemia. Blood Rev 1993;7:1-3.
73. Vermylen C, Cornu G, Ferster A, Ninane J, Sariban E. Bone marrow transplantation in sickle cell disease: the Belgian experience. Bone Marrow Transplant 1993;12:Suppl 1:116-7.
74. Bernaudin F, Souillet G, Vannier JP, et al. Bone marrow transplantation (BMT) in 14 children with severe sickle cell disease (SCD): the French experience. Bone Marrow Transplant 1993;12:Suppl 1:118-21.
75. Walters MC, Patience M, Leisenring W, et al. Barriers to bone marrow transplantation for sickle cell anemia. Biol Blood Marrow Transplant 1996; 2:100-4.
76. Walters MC, Sullivan KM, Bernaudin F, et al. Neurologic complications after allogeneic marrow transplantation for sickle cell anemia. Blood 1995;85:879-84.
77. Ferster A, Christophe C, Dan B, Devalck C, Sariban E. Neurologic complications after bone marrow transplantation for sickle cell anemia. Blood 1995;86:408-9.
78. Abboud MR, Jackson SM, Barredo J, Holden KR, Cure J, Laver J. Neurologic complications following bone marrow transplantation for sickle cell disease. Bone Marrow Transplant 1996;17:405-7.
79. Brichard B, Vermylen C, Ninane J, Cornu G. Persistence of fetal hemoglobin production after successful transplantation of cord blood stem cells in a patient with sickle cell anemia. J Pediatr 1996;128:241-3.
80. Thomas PW, Higgs DR, Serjeant GR. Benign clinical course in homozygous sickle cell disease: a search for predictors. J Clin Epidemiol 1997; 50:121-6.
81. Glauber JG, Wandersee NJ, Little JA, Ginder GD. 5′-Flanking sequences mediate butyrate stimulation of embryonic globin gene expression in adult erythroid cells. Mol Cell Biol 1991;11:4690-7.
82. Perrine SP, Ginder GD, Faller DV, et al. A short-term trial of butyrate to stimulate fetal-globin-gene expression in the β-globin disorders. N Engl J Med 1993;328:81-6.
83. Sher GD, Ginder GD, Little J, Yang S, Dover GJ, Olivieri NF. Extended therapy with intravenous arginine butyrate in patients with β-hemoglobinopathies. N Engl J Med 1995;332:1606-10.
84. Dover GJ, Brusilow S, Charache S. Induction of fetal hemoglobin production in subjects with sickle cell anemia by oral sodium phenylbutyrate. Blood 1994;84:339-43.
85. Blau CA, Constantoulakis P, Shaw CM, Stamatoyannopoulos G. Fetal hemoglobin induction with butyric acid: efficacy and toxicity. Blood 1993; 81:529-37.
86. Atweh GF, Dover GJ, Faller DV, Stamatoyannopoulos G, Fournarakis B, Perrine SP. Sustained hematologic response to pulse butyrate therapy in beta globin disorders. Blood 1996;88:Suppl 1:652a. abstract.
87. Clark MR, Mohandas N, Shohet SB. Hydration of sickle cells using the sodium ionophore Monensin: a model for therapy. J Clin Invest 1982; 70:1074-80.
88. Orringer EP, Brockenbrough JS, Whitney JA, Glosson PS, Parker JC. Okadaic acid inhibits activation of K-Cl cotransport in red blood cells containing hemoglobins S and C. Am J Physiol 1991;261:C591-C593.
89. Berkowitz LR, Orringer EP. Effect of cetiedil, an in vitro antisickling agent, on erythrocyte membrane cation permeability. J Clin Invest 1981; 68:1215-20.
90. + channel of Hb A and Hb S red cells: individual differences in the number of channels. J Membr Biol 1988;106: 243-52.
91. + transport and cell dehydration in sickle erythrocytes by clotrimazole and other imidazole derivatives. J Clin Invest 1993;92:520-6.
92. + transport and reverses erythrocyte dehydration in transgenic SAD mice: a model for therapy of sickle cell disease. J Clin Invest 1994;93:1670-6.
93. Brugnara C, Gee B, Armsby CC, et al. Therapy with oral clotrimazole induces inhibition of the Gardos channel and reduction of erythrocyte dehydration in patients with sickle cell disease. J Clin Invest 1996;97:1227-34.
94. De Franceschi L, Bachir D, Galactéros F, et al. Oral magnesium supplements reduce erythrocyte dehydration in patients with sickle cell disease. J Clin Invest 1997;100:1847-52.
95. de Franceschi L, Rouyer-Fessard P, Alper SL, Jouault H, Brugnara C, Beuzard Y. Combination therapy of erythropoietin, hydroxyurea, and clotrimazole in a β thalassemic mouse: a model for human therapy. Blood 1996;87:1188-95.
96. Goldberg MA, Brugnara C, Dover GJ, Schapira L, Charache S, Bunn HF. Treatment of sickle cell anemia with hydroxyurea and erythropoietin. N Engl J Med 1990;323:366-72.
97. Rodgers GP, Dover GJ, Uyesaka N, Noguchi CT, Schechter AN, Nienhuis AW. Augmentation by erythropoietin of the fetal-hemoglobin response to hydroxyurea in sickle cell disease. N Engl J Med 1993;328:73-80.
98. Head CA, Brugnara C, Martinez-Ruiz R, et al. Low concentrations of nitric oxide increase oxygen affinity of sickle erythrocytes in vitro and in vivo. J Clin Invest 1997;100:1193-8.
99. Adams-Graves P, Kedar A, Koshy M, et al. RheothRx (poloxamer 188) injection for the acute painful episode of sickle cell disease: a pilot study. Blood 1997;90:2041-6.
100. Vichinsky EP, Styles LA, Colangelo LH, et al. Acute chest syndrome in sickle cell disease: clinical presentation and course. Blood 1997;89:1787-92.
101. Adams R, McKie V, Nichols F, et al. The use of transcranial ultrasonography to predict stroke in sickle cell disease. N Engl J Med 1992;326: 605-10.
102. Steinberg MH. Modulation of the phenotypic diversity of sickle cell anemia. Hemoglobin 1996;20:1-19.
103. Ohene-Frempong K, Nkrumah FK. Sickle cell disease in Africa. In: Embury SH, Hebbel RP, Mohandas N, Steinberg MH, eds. Sickle cell disease: basic principles and clinical practice. New York: Raven Press, 1994: 423-35.