Esferocitose hereditária

Referências

Principais artigos

Bolton-Maggs PH, Langer JC, Iolascon A, et al; General Haematology Task Force of the British Committee for Standards in Haematology. Guidelines for the diagnosis and management of hereditary spherocytosis - 2011 update. Br J Haematol. 2012;156:37-49.Texto completo  Resumo

King MJ, Garçon L, Hoyer JD, et al. ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders. Int J Lab Hematol. 2015 Jun;37(3):304-25.Texto completo  Resumo

Iolascon A, Andolfo I, Barcellini W, et al. Recommendations regarding splenectomy in hereditary hemolytic anemias. Haematologica. 2017 Aug;102(8):1304-1313.Texto completo  Resumo

Davies JM, Lewis MP, Wimperis J, et al. Review of guidelines for the prevention and treatment of infection in patients with an absent or dysfunctional spleen: prepared on behalf of the British Committee for Standards in Haematology by a working party of the Haemato-Oncology task force. Br J Haematol. 2011;155:308-317.Texto completo  Resumo

Artigos de referência

1. Eber SW, Armbrust R, Schroter W. Variable clinical severity of hereditary spherocytosis: relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis. J Pediatr. 1990;117:409-416. Resumo

2. Roy SM, Buchanan GR, Crary SE. Splenectomy in children with 'mild' hereditary spherocytosis. J Pediatr Hematol Oncol. 2013;35:430-433. Resumo

3. Mariani M, Barcellini W, Vercellati C, et al. Clinical and hematologic features of 300 patients affected by hereditary spherocytosis grouped according to the type of the membrane protein defect. Haematologica. 2008;93:1310-1317.Texto completo  Resumo

4. Iolascon A, Avvisati RA. Genotype/phenotype correlation in hereditary spherocytosis. Haematologica. 2008;93:1283-1288.Texto completo  Resumo

5. Bolton-Maggs PH, Langer JC, Iolascon A, et al; General Haematology Task Force of the British Committee for Standards in Haematology. Guidelines for the diagnosis and management of hereditary spherocytosis - 2011 update. Br J Haematol. 2012;156:37-49.Texto completo  Resumo

6. Gupta P, Eshaghi N, Ghole V, et al. Presacral extramedullary hematopoiesis: report of a case and review of the literature. Clin Imaging. 2008;32:487-489. Resumo

7. Bowling MR, Cauthen CG, Perry CD, et al. Pulmonary extramedullary hematopoiesis. J Thorac Imaging. 2008;23:138-141. Resumo

8. Jalbert F, Chaynes P, Lagarrigue J. Asymptomatic spherocytosis presenting with spinal cord compression: case report. J Neurosurg Spine. 2005;2:491-494. Resumo

9. Gallagher PG, Weed SA, Tse WT, et al. Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene. J Clin Invest. 1995;95:1174-1182.Texto completo  Resumo

10. 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. 2000;96:1602-1604.Texto completo  Resumo

11. Whitfield CF, Follweiler JB, Lopresti-Morrow L, et al. Deficiency of alpha-spectrin synthesis in burst-forming units-erythroid in lethal hereditary spherocytosis. Blood. 1991;78:3043-3051.Texto completo  Resumo

12. Hansen DL, Glenthøj A, Möller S, et al. Prevalence of congenital demolytic disorders in Denmark, 2000-2016. Clin Epidemiol. 2020;12:485-95.Texto completo  Resumo

13. Kutter D. Hereditary spherocytosis is more frequent than expected: what to tell the patient? Bull Soc Sci Med Grand Duche Luxemb. 2005:7-22. Resumo

14. An X, Mohandas N. Disorders of red cell membrane. Br J Haematol. 2008;141:367-375. Resumo

15. King MJ, Garçon L, Hoyer JD, et al. ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders. Int J Lab Hematol. 2015 Jun;37(3):304-25.Texto completo  Resumo

16. Bolton-Maggs PH, King MJ. Hereditary spherocytosis, hereditary elliptocytosis and related disorders. In: Young NS, Gershon SL, High KA, eds. Clinical hematology. Philadelphia, PA: Mosby Elsevier; 2006:293-307.

17. Young NS. Parvovirus infection and its treatment. Clin Exp Immunol. 1996;104(suppl 1):26-30. Resumo

18. Christensen RD, Yaish HM, Gallagher PG. A pediatrician's practical guide to diagnosing and treating hereditary spherocytosis in neonates. Pediatrics. 2015;135:1107-1114. Resumo

19. King MJ, Behrens J, Rogers C, et al. Rapid flow cytometric test for the diagnosis of membrane cytoskeleton-associated haemolytic anaemia. Br J Haematol. 2000;111:924-933. Resumo

20. King MJ, Smythe JS, Mushens R. Eosin-5-maleimide binding to band 3 and Rh-related proteins forms the basis of a screening test for hereditary spherocytosis. Br J Haematol. 2004;124:106-113. Resumo

21. King MJ, Telfer P, MacKinnon H, et al. Using the eosin-5-maleimide binding test in the differential diagnosis of hereditary spherocytosis and hereditary pyropoikilocytosis. Cytometry B Clin Cytom. 2008;74:244-250. Resumo

22. Hoffmann JJ, Swaak-Lammers N, Breed WP, et al. Diagnostic utility of the pre-incubated acidified glycerol lysis test in haemolytic and non-haemolytic anaemias. Eur J Haematol. 1991;47:367-370. Resumo

23. Qin L, Nie Y, Zhang H, et al. Identification of new mutations in patients with hereditary spherocytosis by next-generation sequencing. J Hum Genet. 2020 Apr;65(4):427-34. Resumo

24. Economou M, Tsatra I, Athanassiou-Metaxa M. Simultaneous presence of Gilbert syndrome and hereditary spherocytosis: interaction in the pathogenesis of hyperbilirubinemia and gallstone formation. Pediatr Hematol Oncol. 2003;20:493-495. Resumo

25. Bianchi P, Fermo E, Vercellati C, et al. Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study in 150 patients grouped according to molecular and clinical characteristics. Haematologica. 2012;97:516-523.Texto completo  Resumo

26. MacKinney AA Jr, Morton NE, Kosower NS, et al. Ascertaining genetic carriers of hereditary spherocytosis by statistical analysis of multiple laboratory tests. J Clin Invest. 1962;41:554-567.Texto completo  Resumo

27. Delhommeau F, Cynober T, Schischmanoff PO, et al. Natural history of hereditary spherocytosis during the first year of life. Blood. 2000;95:393-397.Texto completo  Resumo

28. Kemper AR, Newman TB, Slaughter JL, et al. Clinical practice guideline revision: management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation. Pediatrics. 2022 Sep 1;150(3):e2022058859.Texto completo  Resumo

29. Schilling RF. Risks and benefits of splenectomy versus no splenectomy for hereditary spherocytosis - a personal view. Br J Haematol. 2009;145:728-732. Resumo

30. Iolascon A, Andolfo I, Barcellini W, et al. Recommendations regarding splenectomy in hereditary hemolytic anemias. Haematologica. 2017 Aug;102(8):1304-1313.Texto completo  Resumo

31. Eraklis AJ, Kevy SV, Diamond LK, et al. Hazard of overwhelming infection after splenectomy in childhood. N Engl J Med. 1967;276:1225-1229. Resumo

32. Erickson WD, Burgert EO Jr, Lynn HB. The hazard of infection following splenectomy in children. Am J Dis Child. 1968;116:1-12. Resumo

33. Pedersen FK. Postsplenectomy infections in Danish children splenectomized 1969-1978. Acta Paediatr Scand. 1983;72:589-595. Resumo

34. Walker W. Splenectomy in childhood: a review in England and Wales, 1960-4. Br J Surg. 1976;63:36-43. Resumo

35. Davies JM, Lewis MP, Wimperis J, et al. Review of guidelines for the prevention and treatment of infection in patients with an absent or dysfunctional spleen: prepared on behalf of the British Committee for Standards in Haematology by a working party of the Haemato-Oncology task force. Br J Haematol. 2011;155:308-317.Texto completo  Resumo

36. Centers for Disease Control and Prevention. Vaccine recommendations and guidelines of the ACIP: altered immunocompetence. Sep 2022 [internet publication].Texto completo

37. UK Health Security Agency. Immunisation of individuals with underlying medical conditions: the green book, chapter 7. Jan 2020 [internet publication].Texto completo

38. Kobayashi M, Farrar JL, Gierke R, et al. Use of 15-valent pneumococcal conjugate vaccine among U.S. children: updated recommendations of the Advisory Committee on Immunization Practices - United States, 2022. MMWR Morb Mortal Wkly Rep. 2022 Sep 16;71(37):1174-81.Texto completo  Resumo

39. Seims AD, Breckler FD, Hardacker KD, et al. Partial versus total splenectomy in children with hereditary spherocytosis. Surgery. 2013;154:849-853;discussion 853-855. Resumo

40. Tracy ET, Rice HE. Partial splenectomy for hereditary spherocytosis. Pediatr Clin North Am. 2008;55:503-519. Resumo

41. Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. Lancet. 2008;372:1411-1426. Resumo

42. Ruparel RK, Bogert JN, Moir CR, et al. Synchronous splenectomy during cholecystectomy for hereditary spherocytosis: is it really necessary? J Pediatr Surg. 2014;49:433-435. Resumo

43. Guizzetti L. Total versus partial splenectomy in pediatric hereditary spherocytosis: A systematic review and meta-analysis. Pediatr Blood Cancer. 2016 Oct;63(10):1713-22. Resumo

44. Tripodi SI, Shamberger RC, Heeney MM, et al. Clinical and laboratory outcomes following total or partial splenectomy in patients with hereditary spherocytosis. Pediatr Hematol Oncol. 2019 Sep;36(6):382-9.Texto completo  Resumo

45. Tchernia G, Delhommeau F, Perrotta S, et al; ESPHI working group on hemolytic anemias. Recombinant erythropoietin therapy as an alternative to blood transfusions in infants with hereditary spherocytosis. Hematol J. 2000;1:146-152. Resumo

46. Farruggia P, Puccio G, Ramenghi U, et al. Recombinant erythropoietin vs. blood transfusion care in infants with hereditary spherocytosis: a retrospective cohort study of A.I.E.O.P. patients (Associazione Italiana Emato-Oncologia Pediatrica). Am J Hematol. 2017 Jun;92(6):E103-5. Resumo

47. Schilling RF, Gangnon RE, Traver MI. Delayed adverse vascular events after splenectomy in hereditary spherocytosis. J Thromb Haemost. 2008;6:1289-1295. Resumo

48. Xiros N, Economopoulos T, Papageorgiou E, et al. Massive hemothorax due to intrathoracic extramedullary hematopoiesis in a patient with hereditary spherocytosis. Ann Hematol. 2001;80:38-40. Resumo

49. Boone KE, Watters DA. The incidence of malaria after splenectomy in Papua New Guinea. BMJ. 1995;311:1273.Texto completo  Resumo

50. Das A, Bansal D, Ahluwalia J, et al. Risk factors for thromboembolism and pulmonary artery hypertension following splenectomy in children with hereditary spherocytosis. Pediatr Blood Cancer. 2014;61:29-33. Resumo

51. Hsiao M, Sathya C, Nathens AB, et al. Is activity restriction appropriate for patients with hereditary spherocytosis? A population-based analysis. Ann Hematol. 2013;92:523-525. Resumo

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