References
Wickramasinghe SN, Wood WG (2005) Advances in the understanding of the congenital dyserythropoietic anaemias. Br J Haematol 131:431–446
Iolascon A, Esposito MR, Russo R (2012) Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach. Haematologica 97(12):1786–1794
Dgany O, Avidan N, Delaunay J, Krasnov T, Shalmon L, Shalev H, Eidelitz-Markus T, Kapelushnik J, Cattan D, Pariente A, Tulliez M, Crétien A, Schischmanoff PO, Iolascon A, Fibach E, Koren A, Rössler J, Le Merrer M, Yaniv I, Zaizov R, Ben-Asher E, Olender T, Lancet D, Beckmann JS, Tamary H (2002) Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. Am J Hum Genet 71:1467–1474
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 30:1292–1298
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):4791–4799
Arnaud L, Saison C, Helias V, Lucien N, Steschenko D, Giarratana MC, Prehu C, Foliguet B, Montout L, de Brevern AG, Francina A, Ripoche P, Fenneteau O, Da Costa L, Peyrard T, Coghlan G, Illum N, Birgens H, Tamary H, Iolascon A, Delaunay J, Tchernia G, Cartron JP (2010) A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. Am J Hum Genet 87:721–727
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 24:266–270
Ciovacco WA, Raskind WH, Kacena MA (2008) Human phenotypes associated with GATA-1 mutations. Gene 427(1–2):1–6
Imanishi M, Imamura C, Higashi C, Yan W, Negi S, Futaki S, Sugiura Y (2010) Zinc finger-zinc finger interaction between the transcription factors, GATA-1 and Sp1. Biochem Biophys Res Commun 400(4):625–630
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 110:993–997
Acknowledgments
We thank the patient and family who consented to this study. We are also grateful to Elizabete Cunha, Luis Relvas, Ana Catarina Oliveira, and Helena Almeida for the assistance in the laboratory work and to Joana Azevedo for the comments on the manuscript. This study was supported in part by Forum Hematológico de Coimbra, Portugal.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest
The authors declare that they have no conflict of interest.
Ethical statements
Informed consent was obtained from all individual participants included in the study. All procedures were in accordance with the Helsinki Declaration of 1975, as revised in 2008.
Rights and permissions
About this article
Cite this article
Pereira, J., Bento, C., Manco, L. et al. Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency. Ann Hematol 95, 1551–1553 (2016). https://doi.org/10.1007/s00277-016-2720-0
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00277-016-2720-0