Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency
- 358 Downloads
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.
KeywordsPyruvate Kinase Macrocytic Anemia GATA1 Mutation Ineffective Erythropoiesis Bone Marrow Failure Syndrome
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.
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.
- 3.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 71:1467–1474CrossRefPubMedPubMedCentralGoogle Scholar
- 6.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 87:721–727CrossRefPubMedPubMedCentralGoogle Scholar