Hereditary spherocytosis laboratory findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

The initial laboratory testing for hereditary spherocytosis include; complete blood count (CBC), mean corpuscular hemoglobin concentration (MCHC), blood smear review, hemolysis testing and coombs testing. All individuals suspected of having hereditary spherocytosis based on family history, neonatal jaundice or other findings should have a complete blood count (CBC), reticulocyte count and RBC indices done. Confirmatory tests for hereditary spherocytosis includes EMA binding test, osmotic fragility test, glycerol lysis test, cryohemolysis and plasma membrane electrophoresis.

Laboratory Findings

Initial testing

  • In cases that are unclear or if additional diagnostic confirmation is needed, specialized testing can be pursued.
  • Available tests include the following:

References

  1. Farias, Mariela Granero (2017). "Advances in laboratory diagnosis of hereditary spherocytosis". Clinical Chemistry and Laboratory Medicine (CCLM). 55 (7). doi:10.1515/cclm-2016-0738. ISSN 1437-4331.
  2. Christensen RD, Yaish HM, Gallagher PG (2015). "A pediatrician's practical guide to diagnosing and treating hereditary spherocytosis in neonates". Pediatrics. 135 (6): 1107–14. doi:10.1542/peds.2014-3516. PMC 4444801. PMID 26009624.
  3. King MJ, Garçon L, Hoyer JD, Iolascon A, Picard V, Stewart G; et al. (2015). "ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders". Int J Lab Hematol. 37 (3): 304–25. doi:10.1111/ijlh.12335. PMID 25790109.
  4. Bolton-Maggs PH, Langer JC, Iolascon A, Tittensor P, King MJ, General Haematology Task Force of the British Committee for Standards in Haematology (2012). "Guidelines for the diagnosis and management of hereditary spherocytosis--2011 update". Br J Haematol. 156 (1): 37–49. doi:10.1111/j.1365-2141.2011.08921.x. PMID 22055020.
  5. Jarolim P, Murray JL, Rubin HL, Taylor WM, Prchal JT, Ballas SK; et al. (1996). "Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency". Blood. 88 (11): 4366–74. PMID 8943874.
  6. Hassoun H, Vassiliadis JN, Murray J, Njolstad PR, Rogus JJ, Ballas SK; et al. (1997). "Characterization of the underlying molecular defect in hereditary spherocytosis associated with spectrin deficiency". Blood. 90 (1): 398–406. PMID 9207476.
  7. Becker PS, Tse WT, Lux SE, Forget BG (1993). "Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1". J Clin Invest. 92 (2): 612–6. doi:10.1172/JCI116628. PMC 294892. PMID 8102379.
  8. Coetzer TL, Lawler J, Liu SC, Prchal JT, Gualtieri RJ, Brain MC; et al. (1988). "Partial ankyrin and spectrin deficiency in severe, atypical hereditary spherocytosis". N Engl J Med. 318 (4): 230–4. doi:10.1056/NEJM198801283180407. PMID 2961992.
  9. Michaels LA, Cohen AR, Zhao H, Raphael RI, Manno CS (1997). "Screening for hereditary spherocytosis by use of automated erythrocyte indexes". J Pediatr. 130 (6): 957–60. PMID 9202619.
  10. Bolton-Maggs PH, Langer JC, Iolascon A, Tittensor P, King MJ, General Haematology Task Force of the British Committee for Standards in Haematology (2012). "Guidelines for the diagnosis and management of hereditary spherocytosis--2011 update". Br J Haematol. 156 (1): 37–49. doi:10.1111/j.1365-2141.2011.08921.x. PMID 22055020.
  11. Ciepiela O, Kotuła I, Górska E, Stelmaszczyk-Emmel A, Popko K, Szmydki-Baran A; et al. (2013). "Delay in the measurement of eosin-5′-maleimide (EMA) binding does not affect the test result for the diagnosis of hereditary spherocytosis". Clin Chem Lab Med. 51 (4): 817–23. doi:10.1515/cclm-2012-0240. PMID 23023797.
  12. Ciepiela O, Kotuła I, Górska E, Stelmaszczyk-Emmel A, Popko K, Szmydki-Baran A; et al. (2013). "Delay in the measurement of eosin-5′-maleimide (EMA) binding does not affect the test result for the diagnosis of hereditary spherocytosis". Clin Chem Lab Med. 51 (4): 817–23. doi:10.1515/cclm-2012-0240. PMID 23023797.
  13. King MJ, Behrens J, Rogers C, Flynn C, Greenwood D, Chambers K (2000). "Rapid flow cytometric test for the diagnosis of membrane cytoskeleton-associated haemolytic anaemia". Br J Haematol. 111 (3): 924–33. PMID 11122157.
  14. Kar R, Mishra P, Pati HP (2010). "Evaluation of eosin-5-maleimide flow cytometric test in diagnosis of hereditary spherocytosis". Int J Lab Hematol. 32 (1 Pt 2): 8–16. doi:10.1111/j.1751-553X.2008.01098.x. PMID 18782334.
  15. King MJ, Garçon L, Hoyer JD, Iolascon A, Picard V, Stewart G; et al. (2015). "ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders". Int J Lab Hematol. 37 (3): 304–25. doi:10.1111/ijlh.12335. PMID 25790109.
  16. Cynober T, Mohandas N, Tchernia G (1996). "Red cell abnormalities in hereditary spherocytosis: relevance to diagnosis and understanding of the variable expression of clinical severity". J Lab Clin Med. 128 (3): 259–69. PMID 8783633.
  17. Eber SW, Pekrun A, Neufeldt A, Schröter W (1992). "Prevalence of increased osmotic fragility of erythrocytes in German blood donors: screening using a modified glycerol lysis test". Ann Hematol. 64 (2): 88–92. PMID 1554800.
  18. Stoya G, Gruhn B, Vogelsang H, Baumann E, Linss W (2006). "Flow cytometry as a diagnostic tool for hereditary spherocytosis". Acta Haematol. 116 (3): 186–91. doi:10.1159/000094679. PMID 17016037.
  19. Judkiewicz L, Szczepanek A, Bugała I, Bartosz G (1987). "Modified end-point glycerol hemolysis assay as a screening test for hereditary spherocytosis that requires no venipuncture". Am J Hematol. 26 (1): 89–91. PMID 3631064.
  20. Streichman S, Gescheidt Y (1998). "Cryohemolysis for the detection of hereditary spherocytosis: correlation studies with osmotic fragility and autohemolysis". Am J Hematol. 58 (3): 206–12. PMID 9662272.
  21. Romero RR, Poo JL, Robles JA, Uriostegui A, Vargas F, Majluf-Cruz A (1997). "Usefulness of cryohemolysis test in the diagnosis of hereditary spherocytosis". Arch Med Res. 28 (2): 247–51. PMID 9204617.
  22. Olga Ciepiela (2018). "Old and new insights into the diagnosis of hereditary spherocytosis". Annals of translational medicine. 6 (17): 339. doi:10.21037/atm.2018.07.35. PMID 30306078. Unknown parameter |month= ignored (help)
  23. Paola Bianchi, Elisa Fermo, Cristina Vercellati, Anna P. Marcello, Laura Porretti, Agostino Cortelezzi, Wilma Barcellini & Alberto Zanella (2012). "Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study in 150 patients grouped according to molecular and clinical characteristics". Haematologica. 97 (4): 516–523. doi:10.3324/haematol.2011.052845. PMID 22058213. Unknown parameter |month= ignored (help)

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