Hereditary spherocytosis

References

Key articles

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. Abstract

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.Full text  Abstract

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

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

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.Full text  Abstract

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

Reference articles

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. Abstract

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

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.Full text  Abstract

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

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.Full text  Abstract

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. Abstract

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

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

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.Full text  Abstract

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.Full text  Abstract

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.Full text  Abstract

12. Hansen DL, Glenthøj A, Möller S, et al. Prevalence of congenital hemolytic disorders in Denmark, 2000-2016. Clin Epidemiol. 2020;12:485-95.Full text  Abstract

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. Abstract

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

15. King MJ, Garçon L, Hoyer JD, et al; International Council for Standardization in Haematology (ICSH). ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders. Int J Lab Hematol. 2015;37:304-325.Full text  Abstract

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. Abstract

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. Abstract

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. Abstract

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. Abstract

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. Abstract

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. Abstract

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. Abstract

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. Abstract

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.Full text  Abstract

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.Full text  Abstract

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.Full text  Abstract

28. American Academy of Pediatrics Subcommittee on Hyperbilirubinemia. Management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation. Pediatrics. 2004;114:297-316. [Erratum in: Pediatrics. 2004;114:1138.]Full text  Abstract

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

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

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. Abstract

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

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

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

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.Full text  Abstract

36. 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. Abstract

37. Grace RF, Mednick RE, Neufeld EJ. Compliance with immunizations in splenectomized individuals with hereditary spherocytosis. Pediatr Blood Cancer. 2009;52:865-867. Abstract

38. 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. Abstract

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

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

41. 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. Abstract

42. 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. Abstract

43. 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.Full text  Abstract

44. 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. Abstract

45. 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. Abstract

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

47. Boone KE, Watters DA. The incidence of malaria after splenectomy in Papua New Guinea. BMJ. 1995;311:1273.Full text  Abstract

48. 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. Abstract

49. 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. Abstract

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