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Annals of Hematology

, Volume 95, Issue 9, pp 1551–1553 | Cite as

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

  • Janet Pereira
  • Celeste BentoEmail author
  • Licinio Manco
  • Ataulfo Gonzalez
  • Jose Vagace
  • Maria Letícia Ribeiro
Letter to the Editor

Dear Editor,

A 12-year-old Spanish male was referred to our department to elucidate the etiology of a congenital macrocytic anemia (MCV 104 fL; Hb 9.0 g/dL) with dyserythropoiesis, needing blood transfusions during the first 4 months of life, and mild thrombocytopenia (73 × 109/L) with large platelets. At the age of 3 months, he presented: Hb 5.9 g/dL, reticulocytes 105 × 1012/L, peripheral blood smear with anisocytosis, poikilocytosis, and basophilic stippling. He has a low PK activity (45 % of normal). The bone marrow was suggestive of congenital dyserythropoietic anemia (CDA), with erythroid hyperplasia and dyserythropoiesis and orthochromatic erythroblasts showing an irregular nuclear contour and bi- or multi-nucleated erythroblasts; electronic microscopy identified vacuoles in the cytoplasm of erythroblasts.

CDAs are rare forms of bone marrow failure syndromes characterized by ineffective erythropoiesis [1, 2]. There are three classical forms of CDA presentation due to mutations...

Keywords

Pyruvate Kinase Macrocytic Anemia GATA1 Mutation Ineffective Erythropoiesis Bone Marrow Failure Syndrome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

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.

Compliance with ethical standards

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.

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Copyright information

© Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • Janet Pereira
    • 1
  • Celeste Bento
    • 1
    Email author
  • Licinio Manco
    • 1
  • Ataulfo Gonzalez
    • 2
  • Jose Vagace
    • 3
  • Maria Letícia Ribeiro
    • 1
  1. 1.Serviço de Hematologia Clínica, Hospital PediátricoCentro Hospitalar e Universitário de CoimbraCoimbraPortugal
  2. 2.Departamento de HematologíaHospital Clínico San CarlosMadridSpain
  3. 3.Departamento de Hematología PediátricaHospital Materno InfantilBadajozSpain

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