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Keynote webinar | Spotlight on medication adherence

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Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.
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Annals of Hematology
Published in: Annals of Hematology 12/2017

01-12-2017 | Letter to the Editor

Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations

Authors: Prabhakar Kedar, Vaishali Parmar, Rati Devendra, Vinod Gupta, Prashant Warang, Manisha Madkaikar

Published in: Annals of Hematology | Issue 12/2017

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Excerpt

Dear Editor, …
Literature
1.
Iolascon I, D’Agostaro G, Perrotta S et al (1996) Congenital dyserythropoietic anemia type II: molecular basis and clinical aspect. Haematologica 81:543–559PubMed
2.
Heimpel H, Forteza-Vila J, Queisser W et al (1971) Electron and light microscopic study of the erythropoiesis of patients with congenital dyserythropoietic anemia. Blood 37:299–310PubMed
3.
Babbs C, Roberts NA, Sanchez-Pulido L, McGowan SJ, Ahmed MR, Brown JM et al (2013) Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. Haematologica 98:1383–1387CrossRefPubMedPubMedCentral
4.
Bianchi P, Fermo E, Vercellati C, Boschetti C, Barcellini W, Iurlo A et al (2009) Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. Hum Mutat 30:1292–1298CrossRefPubMed
5.
Russo R, Esposito MR, Asci R et al (2010) Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel mutations in SEC23B gene. Am J Hematol 85:915–920CrossRefPubMedPubMedCentral
6.
Iolascon A, Russo R, Esposito MR, Asci R, Piscopo C, Perrotta S et al (2010) Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship. Haematologica 95:708–715CrossRefPubMed
7.
Heimpel H, Kellermann K, Neuschwander N, Högel J, Schwarz K (2010) The morphological diagnosis of congenital dyserythropoietic anemia: results of a quantitative analysis of peripheral blood and bone marrow cells. Haematologica 95:1034–1036CrossRefPubMedPubMedCentral
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Heimpel H, Matuschek A, Ahmed M et al (2010) Frequency of congenital dyserythropoietic anemias in Europe. Eur J Haematol 85:20–25PubMed
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Kedar PS, Colah RB, Kulkarni SS, Ghosh K, Mohanty D (2003) Experience with eosin-5′-maleimide as a diagnostic tool for red cell membrane disorders. Clinical Laboratory Hematology 25:373–376CrossRef
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Warang P, Gupta M, Kedar PS, Ghosh K, Colah RB (2011) Flow cytometric osmotic fragility—an effective screening approach for red cell membranopathies. Cytometry: Part B - Clinical Cytometry 80:186–190CrossRef
11.
Bianchi P, Fermo E, Vercellati C, Marcello AP, Porretti L, Cortelezzi A, Barcellini W, Zanella A (2012) Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study in 150 patients grouped according to molecular and clinical characteristics. Haematologica 97:516–523CrossRefPubMedPubMedCentral
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Roy NB, Wilson EA, Henderson S et al (2016) A novel 33-gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias. Br J Haematol 175:318–330CrossRefPubMedPubMedCentral
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Singleton B, Bansal D, Varma N, Das R, Naseem S, Saikia UN, Malhotra P, Varma S, Marwaha RK, King M-J, Ahmed M (2015) Homozygosity mapping reveals founder SEC23B-Y462C mutations in Indian congenital dyserythropoietic anemia type II. Clin Genet 88:195–197CrossRefPubMed
14.
Schwarz K, Iolascon A, Verissimo F, Trede NS, Horsley W, Chen W et al (2009) Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nat Genet 41:936–940CrossRefPubMed
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Mancias JD, Goldberg J (2007) The transport signal on Sec22 for packaging into COPII-coated vesicles is a conformational epitope. Mol Cell 26:403–414CrossRefPubMed
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Iolascon A, Heimpel H, Wahlin A, Tamary H (2013) Congenital dyserythropoietic anemias: molecular insights and diagnostic approach. Blood 122:2162–2166CrossRefPubMedPubMedCentral
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Singleton BK, Ahmed M, Green CA, Heimpel H, Wozniak MJ, Ranjha L, Seeney F, Bomford A, Mehta P, Gues TA, Mushens R, King M-J (2016) CD44 as a potential screening marker for preliminary differentiation between congenital dyserythropoietic anemia type II and hereditary spherocytosis. Cytometry Part B DOI. https://​doi.​org/​10.​1002/​cyto.​b.​21488
Metadata
Title
Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations
Authors
Prabhakar Kedar
Vaishali Parmar
Rati Devendra
Vinod Gupta
Prashant Warang
Manisha Madkaikar
Publication date
01-12-2017
Publisher
Springer Berlin Heidelberg
Published in
Annals of Hematology / Issue 12/2017
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI
https://doi.org/10.1007/s00277-017-3116-5

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Live Webinar | 27-06-2024 | 18:00 (CEST)

Keynote webinar | Spotlight on medication adherence

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Live: Thursday 27th June 2024, 18:00-19:30 (CEST)

WHO estimates that half of all patients worldwide are non-adherent to their prescribed medication. The consequences of poor adherence can be catastrophic, on both the individual and population level.

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