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Case Reports
. 2020 Oct;42(7):e686-e688.
doi: 10.1097/MPH.0000000000001742.

Beta-Spectrin Deletion Responsible for Hereditary Spherocytosis: When New Technologies Are Not the Key to Success

Elena Panizo Morgado  1 , María Teresa Darnaude  2 , Julián Torres Mohedas  1 , María Benedit  3 , Áurea Cervera Bravo  1
Affiliations
Case Reports

Beta-Spectrin Deletion Responsible for Hereditary Spherocytosis: When New Technologies Are Not the Key to Success

Elena Panizo Morgado et al. J Pediatr Hematol Oncol. 2020 Oct.

Abstract

Hereditary spherocytosis arises from alterations in the genes encoding red blood cell membrane proteins. Although its diagnosis is mostly clinical, recent advances in next-generation sequencing (NGS) technologies have allowed for a faster cost-effective gene-based diagnosis. We report the case of a boy with spherocytic anemia and development delay in whom a de novo 2.84-Mb deletion at chromosome 14 including SPTB (ß-spectrin gene) was identified by array-based comparative genomic hybridization. This alteration, consistent with de novo spherocytosis, was missed by a NGS gene panel. When associated with other symptoms, especially neurologic, NGS may not be appropriate to genetically diagnose spherocytic anemia.

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References

    1. Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. Lancet. 2008;372:1411–1426.
    1. Andolfo I, Russo R, Gambale A, et al. New insights on hereditary erythrocyte membrane defects. Haematologica. 2016;101:1284–1294.
    1. Bolton-Maggs PHB, Langer JC, Iolascon A, et al. Guidelines for the diagnosis and management of hereditary spherocytosis – 2011 update. Br J Haematol. 2012;156:37–49.
    1. 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;37:304–325.
    1. Narla J, Mohandas N. Red cell membrane disorders. Int J Lab Hematol. 2017;39(suppl 1):47–52.

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