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- Title
Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency.
- Authors
Pereira, Janet; Bento, Celeste; Manco, Licinio; Gonzalez, Ataulfo; Vagace, Jose; Ribeiro, Maria; Ribeiro, Maria Letícia
- Abstract
The article presents a case study of a 12-year-old Spanish male, who was referred to the hospital to elucidate the etiology of a congenital macrocytic anemia with dyserythropoiesis. Topics discussed include characterization of congenital dyserythropoietic anemia (CDA) as rare bone marrow failure syndromes, first report of a CDA associated with a mutation in the GATA1, and GATA1 as an important transcription factor for hematopoiesis regulation.
- Subjects
MACROCYTIC anemia; TRANSCRIPTION factors; REGULATION of hematopoiesis; GENETIC mutation; DIAGNOSIS; FAMILY health; GENEALOGY; GENETIC techniques; NUCLEOTIDES; PROTEINS; TRANSFERASES; SEQUENCE analysis; CONGENITAL hemolytic anemia
- Publication
Annals of Hematology, 2016, Vol 95, Issue 9, p1551
- ISSN
0939-5555
- Publication type
case study
- DOI
10.1007/s00277-016-2720-0