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Annals of Hematology

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01-09-2016 | Letter to the Editor

Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency

Authors: Janet Pereira, Celeste Bento, Licinio Manco, Ataulfo Gonzalez, Jose Vagace, Maria Letícia Ribeiro

Published in: Annals of Hematology | Issue 9/2016

Excerpt

Dear Editor, …

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Bianchi P, Fermo E, Vercellati C, Boschetti C, Barcellini W, Iurlo A, Marcello AP, Righetti PG, Zanella A (2009) Congenital dyserythropoietic anemia type II (CDA II) is caused by mutations in the SEC23B gene. Hum Mutat 30:1292–1298CrossRefPubMed

Liljeholm M, Irvine AF, Vikberg AL, Norberg A, Month S, Sandström H, Wahlin A, Mishima M, Golovleva I (2013) Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23. Blood 121(23):4791–4799CrossRefPubMed

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Nichols KE, Crispino JD, Poncz M, White JG, Orkin SH, Maris JM, Weiss MJ (2000) Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat Genet 24:266–270CrossRefPubMed

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10.

Manco L, Ribeiro ML, Máximo V, Almeida H, Costa A, Freitas O, Barbot J, Abade A, Tamagnini G (2000) A new PKLR gene mutation in the R-type promoter region affects the gene transcription causing pyruvate kinase deficiency. Br J Haematol 110:993–997CrossRefPubMed

Title: Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency
Authors: Janet Pereira
Celeste Bento
Licinio Manco
Ataulfo Gonzalez
Jose Vagace
Maria Letícia Ribeiro
Publication date: 01-09-2016
Publisher: Springer Berlin Heidelberg
Published in: Annals of Hematology / Issue 9/2016
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI: https://doi.org/10.1007/s00277-016-2720-0

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