Hereditary spherocytosis

Eber SW, Armbrust R, Schroter W. Variable clinical severity of hereditary spherocytosis: relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis. J Pediatr. 1990 Sep;117(3):409-16. 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 Jan;156(1):37-49.Full text  Abstract

Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. Lancet. 2008 Oct 18;372(9647):1411-26. Abstract

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.Full text  Abstract

Iolascon A, Andolfo I, Barcellini W, et al. Recommendations regarding splenectomy in hereditary hemolytic anemias. Haematologica. 2017 Aug;102(8):1304-13.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 Nov;155(3):308-17.Full text  Abstract

1. Risinger M, Kalfa TA. Red cell membrane disorders: structure meets function. Blood. 2020 Sep 10;136(11):1250-61.Full text  Abstract

2. Narla J, Mohandas N. Red cell membrane disorders. Int J Lab Hematol. 2017 May;39 Suppl 1:47-52.Full text  Abstract

3. Eber SW, Armbrust R, Schroter W. Variable clinical severity of hereditary spherocytosis: relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis. J Pediatr. 1990 Sep;117(3):409-16. Abstract

4. Polizzi A, Dicembre LP, Failla C, et al. Overview on hereditary spherocytosis diagnosis. Int J Lab Hematol. 2025 Feb;47(1):18-25.Full text  Abstract

5. 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 Sep;93(9):1310-7.Full text  Abstract

6. Iolascon A, Avvisati RA. Genotype/phenotype correlation in hereditary spherocytosis. Haematologica. 2008 Sep;93(9):1283-8.Full text  Abstract

7. 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 Jan;156(1):37-49.Full text  Abstract

8. Gupta P, Eshaghi N, Ghole V, et al. Presacral extramedullary hematopoiesis: report of a case and review of the literature. Clin Imaging. 2008 Nov-Dec;32(6):487-9. Abstract

9. Bowling MR, Cauthen CG, Perry CD, et al. Pulmonary extramedullary hematopoiesis. J Thorac Imaging. 2008 May;23(2):138-41. Abstract

10. Jalbert F, Chaynes P, Lagarrigue J. Asymptomatic spherocytosis presenting with spinal cord compression: case report. J Neurosurg Spine. 2005 Apr;2(4):491-4. Abstract

11. 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 Mar;95(3):1174-82.Full text  Abstract

12. 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 Aug 15;96(4):1602-4.Full text  Abstract

13. 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 Dec 1;78(11):3043-51.Full text  Abstract

14. Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. Lancet. 2008 Oct 18;372(9647):1411-26. Abstract

15. Hansen DL, Glenthøj A, Möller S, et al. Prevalence of congenital hemolytic disorders in Denmark, 2000-2016. Clin Epidemiol. 2020 May 21;12:485-95.Full text  Abstract

16. Kutter D. Hereditary spherocytosis is more frequent than expected: what to tell the patient? Bull Soc Sci Med Grand Duche Luxemb. 2005:(1):7-22. Abstract

17. Elmezughi K, Ekpebegh C. Hereditary spherocytosis with successful splenectomy in a pregnant black South African lady: a case report. Pan Afr Med J. 2019 Aug 7:33:288.Full text  Abstract

18. An X, Mohandas N. Disorders of red cell membrane. Br J Haematol. 2008 May;141(3):367-75. Abstract

19. 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.Full text  Abstract

20. Forde DG, Cope A, Stone B. Acute parvovirus B19 infection in identical twins unmasking previously unidentified hereditary spherocytosis. BMJ Case Rep. 2014 Jul 29;2014:bcr2013202957.Full text  Abstract

21. Alavi S Md, Arabi N Md, Yazdi MK Md, et al. Hereditary spherocytosis unmasked by human parvovirus B19 induced aplastic crisis in a family. Iran J Med Sci. 2015 Sep;40(5):461-4.Full text  Abstract

22. Hannah DM, Tressler TB, Taboada CD. Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis. Case Rep Womens Health. 2017 Oct;16:4-7.Full text  Abstract

23. Christensen RD, Yaish HM, Gallagher PG. A pediatrician's practical guide to diagnosing and treating hereditary spherocytosis in neonates. Pediatrics. 2015;135(6):1107-14.Full text  Abstract

24. 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.

25. Crary SE, Buchanan GR. Vascular complications after splenectomy for hematologic disorders. Blood. 2009 Oct 1;114(14):2861-8.Full text  Abstract

26. Kedar P, Parmar V, Devendra R, et al. Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations. Ann Hematol. 2017 Dec;96(12):2135-9. Abstract

27. Danise P, Amendola G, Nobili B, et al. Flow-cytometric analysis of erythrocytes and reticulocytes in congenital dyserythropoietic anaemia type II (CDA II): value in differential diagnosis with hereditary spherocytosis. Clin Lab Haematol. 2001 Feb;23(1):7-13. Abstract

28. 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 Dec;111(3):924-33. Abstract

29. 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 Jan;124(1):106-13. Abstract

30. 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 Jul;74(4):244-50.Full text  Abstract

31. 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 Nov;47(5):367-70. Abstract

32. Iglauer A, Reinhardt D, Schröter W, et al. Cryohemolysis test as a diagnostic tool for hereditary spherocytosis. Ann Hematol. 1999 Dec;78(12):555-7. Abstract

33. 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

34. Yawata Y, Kanzaki A, Yawata A, et al. Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population. Int J Hematol. 2000 Feb;71(2):118-35. Abstract

35. Yawata Y, Kanzaki A, Yawata A, et al. Hereditary red cell membrane disorders in Japan: their genotypic and phenotypic features in 1014 cases studied. Hematology. 2001;6(6):399-422.Full text  Abstract

36. Eber S, Lux SE. Hereditary spherocytosis--defects in proteins that connect the membrane skeleton to the lipid bilayer. Semin Hematol. 2004 Apr;41(2):118-41. Abstract

37. Lee YK, Cho HI, Park SS, et al. Abnormalities of erythrocyte membrane proteins in Korean patients with hereditary spherocytosis. J Korean Med Sci. 2000 Jun;15(3):284-8.Full text  Abstract

38. Jarolim P, Murray JL, Rubin HL, et al. Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency. Blood. 1996 Dec 1;88(11):4366-74.Full text  Abstract

39. Agre P, Casella JF, Zinkham WH, et al. Partial deficiency of erythrocyte spectrin in hereditary spherocytosis. Nature. 1985 Mar 28-Apr 3;314(6009):380-3. Abstract

40. 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 Sep;20(6):493-5. Abstract

41. 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 Apr;97(4):516-23.Full text  Abstract

42. 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 Mar;41(3):554-67.Full text  Abstract

43. Delhommeau F, Cynober T, Schischmanoff PO, et al. Natural history of hereditary spherocytosis during the first year of life. Blood. 2000 Jan 15;95(2):393-7.Full text  Abstract

44. 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.Full text  Abstract

45. Schilling RF. Risks and benefits of splenectomy versus no splenectomy for hereditary spherocytosis - a personal view. Br J Haematol. 2009 Jun;145(6):728-32. Abstract

46. Iolascon A, Andolfo I, Barcellini W, et al. Recommendations regarding splenectomy in hereditary hemolytic anemias. Haematologica. 2017 Aug;102(8):1304-13.Full text  Abstract

47. 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 Nov;155(3):308-17.Full text  Abstract

48. Centers for Disease Control and Prevention. Vaccines and immunizations: altered immunocompetence. Aug 2023 [internet publication].Full text

49. Kobayashi M, Pilishvili T, Farrar JL, et al. Pneumococcal vaccine for adults aged ≥19 years: recommendations of the advisory committee on immunization practices, United States, 2023. MMWR Recomm Rep. 2023 Sep 8;72(3):1-39.Full text  Abstract

50. Centers for Disease Control and Prevention. Recommendations for ages 18 years or younger, United States, 2025: child immunization schedule notes. Nov 2024 [internet publication].Full text

51. Centers for Disease Control and Prevention. Recommendations for ages 19 years or older, United States, 2025: adult immunization schedule notes.​ Nov 2024 [internet publication].Full text

52. Seims AD, Breckler FD, Hardacker KD, et al. Partial versus total splenectomy in children with hereditary spherocytosis. Surgery. 2013 Oct;154:849-53; discussion 853-5. Abstract

53. 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

54. Buesing KL, Tracy ET, Kiernan C, et al. Partial splenectomy for hereditary spherocytosis: a multi-institutional review. J Pediatr Surg. 2011 Jan;46(1):178-83. Abstract

55. Tang X, Xue J, Zhang J, et al. The efficacy of partial versus total splenectomy in the treatment of hereditary spherocytosis in children: a systematic review and meta-analysis. Pediatr Surg Int. 2024 Oct 29;40(1):280. Abstract

56. 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

57. Tracy ET, Rice HE. Partial splenectomy for hereditary spherocytosis. Pediatr Clin North Am. 2008 Apr;55(2):503-19. Abstract

58. Ruparel RK, Bogert JN, Moir CR, et al. Synchronous splenectomy during cholecystectomy for hereditary spherocytosis: is it really necessary? J Pediatr Surg. 2014 Mar;49(3):433-5. Abstract

59. Schilling RF, Gangnon RE, Traver MI. Delayed adverse vascular events after splenectomy in hereditary spherocytosis. J Thromb Haemost. 2008 Aug;6(8):1289-95.Full text  Abstract

60. Xiros N, Economopoulos T, Papageorgiou E, et al. Massive hemothorax due to intrathoracic extramedullary hematopoiesis in a patient with hereditary spherocytosis. Ann Hematol. 2001 Jan;80(1):38-40. Abstract

61. Boone KE, Watters DA. The incidence of malaria after splenectomy in Papua New Guinea. BMJ. 1995 Nov 11;311(7015):1273.Full text  Abstract

62. 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 Jan;61(1):29-33. Abstract

63. Hsiao M, Sathya C, Nathens AB, et al. Is activity restriction appropriate for patients with hereditary spherocytosis? A population-based analysis. Ann Hematol. 2013 Apr;92(4):523-5. Abstract