Drepanocitosi. Nuovi aspetti della diagnosi precoce e della cura

di Elena Bigi, Giovanni Palazzi, Laura Lucaccioni, Lorenzo Iughetti

UOC Oncoematologia Pediatrica, AO Policlinico di Modena, Università degli Studi di Modena e Reggio Emilia

Il Pediatra 2016; 5: 42-47

Bibliografia

1. 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: 1639-1644.
2. Panepinto JA, O’Mahar KM, DeBaun MR, et al. Health-related quality of life in children with sickle cell disease: child and parent perception. Br J Haematol 2005; 130: 437-444.
3. Piel FB, Patil AP, Howes RE, et al. Global epidemiology of sickle haemoglobin in neonates: a contemporary geostatistical model-based map and population estimates. Lancet 2013; 381: 142-151.
4. Schnog JB, Duits AJ, Muskiet FA, et al. Sickle cell disease; a general overview. Neth J Med 2004; 62: 364-374.
5. Meier ER, Miller JL. Sickle cell disease in children. Drugs 2012; 72: 895-906.
6. Rees DC, Williams TN, Gladwin MT. Sickle-cell disease. Lancet 2010; 376: 2018-2031.
7. Diggs LM. Sickle Cell Disease: Diagnosis, Management, Education, and Research Co-Chairmen and Editors-Harold Abramson. In: Bertles JF, Wethers DL, editors. Louis: The C. V. Mosby Company, 1973.
8. Quinn CT, Rogers ZR, McCavit TL, Buchanan GR. Improved survival of children and adolescents with sickle cell disease. Blood 2010; 115: 3447-3452.
9. Lobo CL, Ballas SK, Domingos AC, et al. Newborn screening program for hemoglobinopathies in Rio de Janeiro, Brazil. Pediatr Blood Cancer 2014; 61: 34-39.
10. Telfer P, Coen P, Chakravorty S, et al. Clinical outcomes in children with sickle cell disease living in England: a neonatal cohort in East London. Haematologica 2007; 92: 905-912.
11. Therrell BL, Lloyd-Puryear MA, Eckman JR, Mann MY. Newborn screening for sickle cell diseases in the United States: A review of data spanning 2 decades. Semin Perinatol 2015; 39: 238-251.
12. Gaston MH, Verter JI, Woods G, et al. Prophylaxis with oral penicillin in children with sickle cell anemia. A randomized trial. N Engl J Med 1986; 314: 1593-1599.
13. Hirst C, Owusu-Ofori S. Prophylactic antibiotics for preventing pneumococcal infection in children with sickle cell disease. Cochrane Database Syst Rev 2014; 11: CD003427.
14. Pass KA, Lane PA, Fernhoff PM, et al. US newborn screening system guidelines II: follow-up of children, diagnosis, management, and evaluation. Statement of the Council of Regional Networks for Genetic Services (CORN). J Pediatr 2000; 137: S1-4.
15. Ballas SK. Current issues in sickle cell pain and its management. Hematology Am Soc Hematol Educ Program 2007; 2007: 97-105.
16. Smith WR, Penberthy LT, Bovbjerg VE, et al. Daily assessment of pain in adults with sickle cell disease. Ann Intern Med 2008; 148: 94-101.
17. Platt OS, Thorington BD, Brambilla DJ, et al. Pain in sickle cell disease. Rates and risk factors. N Engl J Med 1991; 325: 11-16.
18. Steinberg MH. Management of sickle cell disease. N Engl J Med 1999; 340: 1021-1030.
19. Frei-Jones MJ, Baxter AL, Rogers ZR, Buchanan GR. Vaso-occlusive episodes in older children with sickle cell disease: emergency department management and pain assessment. J Pediatr 2008; 152: 281-285.
20. Tanabe P, Myers R, Zosel A, et al. Emergency department management of acute pain episodes in sickle cell disease. Acad Emerg Med 2007; 14: 419-425.
21. Solomon LR. Treatment and prevention of pain due to vaso-occlusive crises in adults with sickle cell disease: an educational void. Blood 2008; 111: 997-1003.
22. Yawn BP, Buchanan GR, Afenyi-Annan AN, et al. Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members. JAMA 2014; 312: 1033-1048.
23. Orringer EP, Casella JF, Ataga KI, et al. Purified poloxamer 188 for treatment of acute vaso-occlusive crisis of sickle cell disease: A randomized controlled trial. JAMA 2001; 286: 2099-2106.
24. Gladwin MT, Kato GJ, Weiner D, et al. Nitric oxide for inhalation in the acute treatment of sickle cell pain crisis: a randomized controlled trial. JAMA 2011; 305: 893-902.
25. Telen MJ, Wun T, McCavit TL, et al. Randomized phase 2 study of GMI-1070 in SCD: reduction in time to resolution of vaso-occlusive events and decreased opioid use. Blood 2015; 125: 2656-2664.
26. Manwani D, Frenette PS. Vaso-occlusion in sickle cell disease: pathophysiology and novel targeted therapies. Blood 2013; 122: 3892-3898.
27. Ballas SK, Lieff S, Benjamin LJ, et al. Definitions of the phenotypic manifestations of sickle cell disease. Am J Hematol 2010; 85: 6-13.
28. Paul RN, Castro OL, Aggarwal A, Oneal PA. Acute chest syndrome: sickle cell disease. Eur J Haematol 2011; 87: 191-207.
29. Castro O, Brambilla DJ, Thorington B, et al. The acute chest syndrome in sickle cell disease: incidence and risk factors. The Cooperative Study of Sickle Cell Disease. Blood 1994; 84: 643-649.
30. Vichinsky EP, Neumayr LD, Earles AN, et al. Causes and outcomes of the acute chest syndrome in sickle cell disease. National Acute Chest Syndrome Study Group. N Engl J Med 2000; 342: 1855-1865.
31. Stuart MJ, Setty BN. Acute chest syndrome of sickle cell disease: new light on an old problem. Curr Opin Hematol 2001; 8: 111-122.
32. Howard J, Hart N, Roberts-Harewood M, et al. Guideline on the management of acute chest syndrome in sickle cell disease. Br J Haematol 2015; 169: 492-505.
33. Amid A, Odame I. Improving outcomes in children with sickle cell disease: treatment considerations and strategies. Paediatr Drugs 2014; 16: 255-266.
34. Emre U, Miller ST, Gutierez M, et al. Effect of transfusion in acute chest syndrome of sickle cell disease. J Pediatr 1995; 127: 901-904.
35. Miller ST. How I treat acute chest syndrome in children with sickle cell disease. Blood 2011; 117: 5297-5305.
36. Ohene-Frempong K, Weiner SJ, Sleeper LA, et al. Cerebrovascular accidents in sickle cell disease: rates and risk factors. Blood 1998; 91: 288-294.
37. Miller ST, Macklin EA, Pegelow CH, et al. Silent infarction as a risk factor for overt stroke in children with sickle cell anemia: a report from the Cooperative Study of Sickle Cell Disease. J Pediatr 2001; 139: 385-390.
38. 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: 605-610.
39. Adams RJ, McKie VC, Carl EM, et al. Long-term stroke risk in children with sickle cell disease screened with transcranial Doppler. Ann Neurol 1997; 42: 699-704.
40. Kassim AA, Galadanci NA, Pruthi S, DeBaun MR. How I treat and manage strokes in sickle cell disease. Blood 2015; 125: 3401-3410.
41. Fullerton HJ, Adams RJ, Zhao S, Johnston SC. Declining stroke rates in Californian children with sickle cell disease. Blood 2004; 104: 336-339.
42. Adams RJ, Brambilla D. Discontinuing prophylactic transfusions used to prevent stroke in sickle cell disease. N Engl J Med 2005; 353: 2769-2778.
43. Walters MC, Hardy K, Edwards S, et al. Pulmonary, gonadal, and central nervous system status after bone marrow transplantation for sickle cell disease. Biol Blood Marrow Transplant 2010; 16: 263-272.
44. Vermylen C, Cornu G, Ferster A, et al. Haematopoietic stem cell transplantation for sickle cell anaemia: the first 50 patients transplanted in Belgium. Bone Marrow Transplant 1998; 22: 1-6.
45. Dallas MH, Triplett B, Shook DR, et al. Long-term outcome and evaluation of organ function in pediatric patients undergoing haploidentical and matched related hematopoietic cell transplantation for sickle cell disease. Biol Blood Marrow Transplant 2013; 19: 820-830.
46. Bernaudin F, Socie G, Kuentz M, et al. Long-term results of related myeloablative stem-cell transplantation to cure sickle cell disease. Blood 2007; 110: 2749-2756.
47. De Baun MR, Kirkham FJ. Central nervous system complications and management in sickle cell disease: a review. Blood 2016; 127:829-38.
48. DeBaun MR, Armstrong FD, McKinstry RC, et al. Silent cerebral infarcts: a review on a prevalent and progressive cause of neurologic injury in sickle cell anemia. Blood 2012; 119: 4587-4596.
49. Pegelow CH, Macklin EA, Moser FG, et al. Longitudinal changes in brain magnetic resonance imaging findings in children with sickle cell disease. Blood 2002; 99: 3014-3018.
50. Watkins KE, Hewes DK, Connelly A, et al. Cognitive deficits associated with frontal-lobe infarction in children with sickle cell disease. Dev Med Child Neurol 1998; 40: 536-543.
51. DeBaun MR, Schatz J, Siegel MJ, et al Cognitive screening examinations for silent cerebral infarcts in sickle cell disease. Neurology 1998; 50: 1678-1682 .
52. Brown RT, Davis PC, Lambert R, et al. Neurocognitive functioning and magnetic resonance imaging in children with sickle cell disease. J Pediatr Psychol 2000; 25: 503-513.
53. Hogan AM, Pit-ten Cate IM, Vargha-Khadem F, et al. Physiological correlates of intellectual function in children with sickle cell disease: hypoxaemia, hyperaemia and brain infarction. Dev Sci 2006; 9: 379-387.
54. Armstrong FD, Thompson RJ, Wang W, et al. Cognitive functioning and brain magnetic resonance imaging in children with sickle Cell disease. Neuropsychology Committee of the Cooperative Study of Sickle Cell Disease. Pediatrics 1996; 97: 864-870.
55. Steen RG, Reddick WE, Mulhern RK, et al. Quantitative MRI of the brain in children with sickle cell disease reveals abnormalities unseen by conventional MRI. J Magn Reson Imaging 1998; 8: 535-543.
56. Schatz J, Brown RT, Pascual JM, et al. Poor school and cognitive functioning with silent cerebral infarcts and sickle cell disease. Neurology 2001; 56: 1109-1111.
57. Kugler S, Anderson B, Cross D, et al. Abnormal cranial magnetic resonance imaging scans in sickle-cell disease. Neurological correlates and clinical implications. Arch Neurol 1993; 50: 629-635.
58. DeBaun MR, Gordon M, McKinstry RC, et al. Controlled trial of transfusions for silent cerebral infarcts in sickle cell anemia. N Engl J Med 2014; 371: 699-710.
59. Ware RE. How I use hydroxyurea to treat young patients with sickle cell anemia. Blood 2010; 115: 5300-5311.
60. King SB. Nitric oxide production from hydroxyurea. Free Radic Biol Med 2004; 37: 737-744.
61. European Medicines Agency Pre-authorisation Evaluation of Medicines for Human Use. Available from: URL:http://www.ema.europa.eu/docs/enGB/document_library/Orphan_designation/2009/10/WC500006488.pdf
62. Thornburg CD, Files BA, Luo Z, et al. Impact of hydroxyurea on clinical events in the BABY HUG trial. Blood 2012; 120: 4304-4310; quiz 4448.
63. Charache S, Terrin ML, Moore RD, et al. Effect of hydroxyurea on the frequency of painful crises in sickle cell anemia. Investigators of the Multicenter Study of Hydroxyurea in Sickle Cell Anemia. N Engl J Med 1995; 332: 1317-1322.
64. Lobo CL, Pinto JF, Nascimento EM, et al. The effect of hydroxcarbamide therapy on survival of children with sickle cell disease. Br J Haematol 2013; 161: 852-860.
65. Steinberg MH, McCarthy WF, Castro O, et al. The risks and benefits of long-term use of hydroxyurea in sickle cell anemia: A 17.5 year follow-up. Am J Hematol 2010; 85: 403-408.
66. Rana S, Houston PE, Wang WC, et al Hydroxyurea and growth in young children with sickle cell disease. Pediatrics 2014; 134: 465-472.
67. Wong TE, Brandow AM, Lim W, Lottenberg R. Update on the use of hydroxyurea therapy in sickle cell disease. Blood 2014; 124: 3850-3857; quiz 4004.
68. Khayat AS, Antunes LM, Guimarães AC, et al. Cytotoxic and genotoxic monitoring of sickle cell anaemia patients treated with hydroxyurea. Clin Exp Med 2006; 6: 33-37.
69. de Montalembert M, Bégué P, Bernaudin F, et al. Preliminary report of a toxicity study of hydroxyurea in sickle cell disease. French Study Group on Sickle Cell Disease. Arch Dis Child 1999; 81: 437-439.
70. Berthaut I, Guignedoux G, Kirsch-Noir F, et al. Influence of sickle cell disease and treatment with hydroxyurea on sperm parameters and fertility of human males. Haematologica 2008; 93: 988-993.
71. Ballas SK, McCarthy WF, Guo N, et al. Exposure to hydroxyurea and pregnancy outcomes in patients with sickle cell anemia. J Natl Med Assoc 2009; 101: 1046-1051.
72. Johnson FL, Look AT, Gockerman J, et al. Bone-marrow transplantation in a patient with sickle-cell anemia. N Engl J Med 1984; 311: 780-783.
73. Walters MC, Patience M, Leisenring W, et al. Bone marrow transplantation for sickle cell disease. N Engl J Med 1996; 335: 369-376.
74. Bernaudin F, Souillet G, Vannier JP, et al. Report of the French experience concerning 26 children transplanted for severe sickle cell disease. Bone Marrow Transplant 1997; 19 Suppl 2: 112-115.
75. Walters MC, Storb R, Patience M, et al. Impact of bone marrow transplantation for symptomatic sickle cell disease: an interim report. Multicenter investigation of bone marrow transplantation for sickle cell disease. Blood 2000; 95: 1918-1924.
76. Locatelli F, Rocha V, Reed W, et al. Related umbilical cord blood transplantation in patients with thalassemia and sickle cell disease. Blood 2003; 101: 2137-2143.
77. Panepinto JA, Walters MC, Carreras J, et al. Matched-related donor transplantation for sickle cell disease: report from the Center for International Blood and Transplant Research. Br J Haematol 2007; 137: 479-485.
78. Walters MC. Update of hematopoietic cell transplantation for sickle cell disease. Curr Opin Hematol 2015; 22: 227-233.
79. Rocha V, Wagner JE, Sobocinski KA, et al. Graft-versus-host disease in children who have received a cord-blood or bone marrow transplant from an HLA-identical sibling. Eurocord and International Bone Marrow Transplant Registry Working Committee on Alternative Donor and Stem Cell Sources. N Engl J Med 2000; 342: 1846-1854.
80. Rocha V, Locatelli F. Searching for alternative hematopoietic stem cell donors for pediatric patients. Bone Marrow Transplant 2008; 41: 207-214.
81. Hsieh MM, Fitzhugh CD, Tisdale JF. Allogeneic hematopoietic stem cell transplantation for sickle cell disease: the time is now. Blood 2011; 118: 1197-1207.
82. Gragert L, Eapen M, Williams E, et al. HLA match likelihoods for hematopoietic stem-cell grafts in the U.S. registry. N Engl J Med 2014; 371: 339-348.
83. Walters MC, Patience M, Leisenring W, et al. Barriers to bone marrow transplantation for sickle cell anemia. Biol Blood Marrow Transplant 1996; 2: 100-104.
84. Bluebird bio. A Study Evaluating the Efficacy and Safety of LentiGlobin BB305 Drug Product in Beta-Thalassemia Major and Sickle Cell Disease. In: ClinicalTrials.gov [Internet]. Bethesda (MD): National Library of Medicine (US). Available from: URL: https://clinicaltrials.gov/ct2/show/NCT02151526
85. de Montalembert M. Current strategies for the management of children with sickle cell disease. Expert Rev Hematol 2009; 2: 455-463.
86. Kanter J, Kruse-Jarres R. Management of sickle cell disease from childhood through adulthood. Blood Rev 2013; 27: 279-287.
87. McPherson M, Thaniel L, Minniti CP. Transition of patients with sickle cell disease from pediatric to adult care: Assessing patient readiness. Pediatr Blood Cancer 2009; 52: 838-841.
88. Brousseau DC, Owens PL, Mosso AL, et al. Acute care utilization and rehospitalizations for sickle cell disease. JAMA 2010; 303: 1288-1294.