Hereditary Spherocytosis Questions & Answers

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4. Zhu X, Peng M, Yin Y, Zhang Y, Zheng D, Peng Z, et al. Identification of a novel ANK1 mutation in a Chinese family with hereditary spherocytosis: A case report. Exp Ther Med. 2023 Jan. 25 (1):4. [QxMD MEDLINE Link]. [Full Text].

5. Bianchi P, Fermo E, Vercellati C, Marcello AP, Porretti L, Cortelezzi A, et al. Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study on 150 patients grouped according to the molecular and clinical characteristics. Haematologica. 2011 Nov 4. [QxMD MEDLINE Link].

6. [Guideline] Bolton-Maggs PH, Langer JC, Iolascon A, Tittensor P, King MJ. Guidelines for the diagnosis and management of hereditary spherocytosis - 2011 update. Br J Haematol. 2012 Jan. 156(1):37-49. [QxMD MEDLINE Link]. [Full Text].

7. Abdullah F, Zhang Y, Camp M, Rossberg MI, Bathurst MA, Colombani PM, et al. Splenectomy in hereditary spherocytosis: Review of 1,657 patients and application of the pediatric quality indicators. Pediatr Blood Cancer. 2009 Jul. 52(7):834-7. [QxMD MEDLINE Link].

8. Li H, Lu L, Li X, Buffet PA, Dao M, Karniadakis GE, et al. Mechanics of diseased red blood cells in human spleen and consequences for hereditary blood disorders. Proc Natl Acad Sci U S A. 2018 Sep 18. 115 (38):9574-9579. [QxMD MEDLINE Link]. [Full Text].

9. Perrotta S, Della Ragione F, Rossi F, Avvisati RA, Di Pinto D, De Mieri G, et al. Beta-spectrinBari: a truncated beta-chain responsible for dominant hereditary spherocytosis. Haematologica. 2009 Dec. 94 (12):1753-7. [QxMD MEDLINE Link]. [Full Text].

10. Maciag M, Plochocka D, Adamowicz-Salach A, Burzynska B. Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA. Br J Haematol. 2009 Aug. 146(3):326-32. [QxMD MEDLINE Link].

11. Crisp RL, Maltaneri RE, Vittori DC, Solari L, Gammella D, Schvartzman G, et al. Red blood cell aquaporin-1 expression is decreased in hereditary spherocytosis. Ann Hematol. 2016 Oct. 95 (10):1595-601. [QxMD MEDLINE Link].

12. Zaninoni A, Vercellati C, Imperiali FG, Marcello AP, Fattizzo B, Fermo E, et al. Detection of red blood cell antibodies in mitogen-stimulated cultures from patients with hereditary spherocytosis. Transfusion. 2015 Aug 10. [QxMD MEDLINE Link].

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15. Teunissen M, Hijmans CT, Cnossen MH, Bronner MB, Grootenhuis MA, Peters M. Quality of life and behavioral functioning in Dutch pediatric patients with hereditary spherocytosis. Eur J Pediatr. 2014 Apr 16. [QxMD MEDLINE Link].

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17. Maciak K, Adamowicz-Salach A, Siwicka A, Poznanski J, Urasinski T, Plochocka D, et al. Hereditary xerocytosis - spectrum and clinical manifestations of variants in the PIEZO1 gene, including co-occurrence with a novel β-globin mutation. Blood Cells Mol Dis. 2020 Feb. 80:102378. [QxMD MEDLINE Link]. [Full Text].

18. Ciepiela O. Old and new insights into the diagnosis of hereditary spherocytosis. Ann Transl Med. 2018 Sep. 6 (17):339. [QxMD MEDLINE Link]. [Full Text].

19. Da Costa L, Suner L, Galimand J, Bonnel A, Pascreau T, Couque N, et al. Diagnostic tool for red blood cell membrane disorders: Assessment of a new generation ektacytometer. Blood Cells Mol Dis. 2016 Jan. 56 (1):9-22. [QxMD MEDLINE Link].

20. Lazarova E, Gulbis B, Oirschot BV, van Wijk R. Next-generation osmotic gradient ektacytometry for the diagnosis of hereditary spherocytosis: interlaboratory method validation and experience. Clin Chem Lab Med. 2017 Mar 1. 55 (3):394-402. [QxMD MEDLINE Link].

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22. Farias MG. Advances in laboratory diagnosis of hereditary spherocytosis. Clin Chem Lab Med. 2017 Jun 27. 55 (7):944-948. [QxMD MEDLINE Link].

23. Barcellini W, Bianchi P, Fermo E, Imperiali FG, Marcello AP, Vercellati C, et al. Hereditary red cell membrane defects: diagnostic and clinical aspects. Blood Transfus. 2011 Jul. 9 (3):274-7. [QxMD MEDLINE Link]. [Full Text].

24. Lazarova E, Gulbis B, Oirschot BV, Wijk RV. Next-generation osmotic gradient ektacytometry for the diagnosis of hereditary spherocytosis: interlaboratory method validation and experience. Clin Chem Lab Med. 2016 Aug 25. [QxMD MEDLINE Link].

25. Li Y, Lu L, Li J. Topological Structures and Membrane Nanostructures of Erythrocytes after Splenectomy in Hereditary Spherocytosis Patients via Atomic Force Microscopy. Cell Biochem Biophys. 2016 Sep. 74 (3):365-71. [QxMD MEDLINE Link].

26. Casale M, Perrotta S. Splenectomy for hereditary spherocytosis: complete, partial or not at all?. Expert Rev Hematol. 2011 Dec. 4(6):627-35. [QxMD MEDLINE Link].

27. Morinis J, Dutta S, Blanchette V, Butchart S, Langer JC. Laparoscopic partial vs total splenectomy in children with hereditary spherocytosis. J Pediatr Surg. 2008 Sep. 43(9):1649-52. [QxMD MEDLINE Link].

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29. Iolascon A, et al; Working Study Group on Red Cells and Iron of the EHA. Recommendations regarding splenectomy in hereditary hemolytic anemias. Haematologica. 2017 Aug. 102 (8):1304-1313. [QxMD MEDLINE Link]. [Full Text].

30. Pincez T, Guitton C, Gauthier F, de Lambert G, Picard V, Fénéant-Thibault M, et al. Long-term follow-up of subtotal splenectomy for hereditary spherocytosis: a single-center study. Blood. 2016 Mar 24. 127 (12):1616-8. [QxMD MEDLINE Link]. [Full Text].

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34. Hsiao M, Sathya C, Nathens AB, de Mestral C, Hill AD, Langer JC. Is activity restriction appropriate for patients with hereditary spherocytosis? A population-based analysis. Ann Hematol. 2013 Apr. 92(4):523-5. [QxMD MEDLINE Link].

Gus Gonzalez, MD Medical Oncologist, Cox Medical Center Branson and CoxHealth Springfield

Gus Gonzalez, MD is a member of the following medical societies: American College of Physicians-American Society of Internal Medicine

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Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

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Ronald A Sacher, MD, FRCPC, DTM&H Professor Emeritus of Internal Medicine and Hematology/Oncology, Emeritus Director, Hoxworth Blood Center, University of Cincinnati Academic Health Center

Ronald A Sacher, MD, FRCPC, DTM&H is a member of the following medical societies: American Association for the Advancement of Science, American Association of Blood Banks, American Clinical and Climatological Association, American Society for Clinical Pathology, American Society of Hematology, College of American Pathologists, International Society of Blood Transfusion, International Society on Thrombosis and Haemostasis, Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

Emmanuel C Besa, MD Professor Emeritus, Department of Medicine, Division of Hematologic Malignancies and Hematopoietic Stem Cell Transplantation, Kimmel Cancer Center, Jefferson Medical College of Thomas Jefferson University

Emmanuel C Besa, MD is a member of the following medical societies: American Association for Cancer Education, American Society of Clinical Oncology, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Hematology, New York Academy of Sciences

Disclosure: Nothing to disclose.

Paul Schick, MD † Emeritus Professor, Department of Internal Medicine, Jefferson Medical College of Thomas Jefferson University; Research Professor, Department of Internal Medicine, Drexel University College of Medicine; Adjunct Professor of Medicine, Lankenau Hospital

Paul Schick, MD is a member of the following medical societies: American College of Physicians, American Society of Hematology

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E Randy Eichner, MD Professor, Department of Internal Medicine, University of Oklahoma Health Sciences Center

E Randy Eichner, MD is a member of the following medical societies: Alpha Omega Alpha, American College of Sports Medicine, American Medical Society for Sports Medicine, and American Society of Hematology

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