title: Concomitant a novel ALAS2 mutation and GATA1 mutation in a newborn: a case report and review of the literature.
abstract: GATA-1, an X-linked gene, encodes a transcription factor that plays a role in erythropoiesis and megakaryopoiesis. GATA-1 mutations have been associated with various diseases, such as X-linked thrombocytopenia. ALAS2 is an X-linked erythroid-specific isoenzyme expressed during erythropoiesis. Mutations of ALAS2 were associated with X-linked sideroblastic anemia. We report a case of newborn twin boy with anemia and thrombocytopenia at birth. A bone marrow biopsy at 4 months of age showed marked dyserythropoiesis, dysmegakaryopoiesis, and rare ringed sideroblasts. Gene sequencing study showed a previously reported mutation in GATA-1 at c.622G>A location (G208R) and a novel ALAS2 mutation at c.1436G>A location (R479Q).
authors.affiliation: Department of Pediatrics, Emory University School of Medicine Atlanta, GA 30322, USA.
authors.forename: Bhavya S
authors.initials: BS
authors.lastname: Doshi
authors.affiliation: Department of Pathology, Emory University School of Medicine Atlanta, GA 30322, USA.
authors.forename: Carlos
authors.initials: C
authors.lastname: Abramowsky
authors.affiliation: Children's Healthcare of Atlanta, Aflac Cancer and Blood Disorders Center Atlanta, GA 30322, USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Briones
authors.affiliation: Department of Pathology, Children's Healthcare of Atlanta, Emory University Atlanta, GA, 30322, USA.
authors.forename: Silvia T
authors.initials: ST
authors.lastname: Bunting
keywords: ALAS2 mutation; GATA1 mutation; dyserythropoiesis; dysmegakaryopoiesis; macrothrombocytopenia; ringed sideroblasts