遗传性球形细胞增多症

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.全文  摘要

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.全文  摘要

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

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.全文  摘要

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. 摘要

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

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.全文  摘要

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

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.全文  摘要

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. 摘要

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

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

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.全文  摘要

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.全文  摘要

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.全文  摘要

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

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. 摘要

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

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.全文  摘要

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. 摘要

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. 摘要

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. 摘要

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. 摘要

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. 摘要

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. 摘要

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. 摘要

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. 摘要

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.全文  摘要

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.全文  摘要

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.全文  摘要

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.全文  摘要

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

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

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. 摘要

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

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

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

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.全文  摘要

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

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

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.全文  摘要

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. 摘要

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

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

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. 摘要

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. 摘要

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.全文  摘要

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. 摘要

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. 摘要

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

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. 摘要

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

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. 摘要

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. 摘要