Concomitant a novel ALAS2 mutation and GATA1 mutation in a newborn: a case report and review of the literature

Bhavya S Doshi; Carlos Abramowsky; Michael Briones; Silvia T Bunting

Concomitant a novel ALAS2 mutation and GATA1 mutation in a newborn: a case report and review of the literature

Am J Blood Res. 2014 Sep 5;4(1):41-5. eCollection 2014.

Authors

Bhavya S Doshi¹, Carlos Abramowsky², Michael Briones³, Silvia T Bunting⁴

Affiliations

¹ Department of Pediatrics, Emory University School of Medicine Atlanta, GA 30322, USA.
² Department of Pathology, Emory University School of Medicine Atlanta, GA 30322, USA.
³ Children's Healthcare of Atlanta, Aflac Cancer and Blood Disorders Center Atlanta, GA 30322, USA.
⁴ Department of Pathology, Children's Healthcare of Atlanta, Emory University Atlanta, GA, 30322, USA.

PMID: 25232504
PMCID: PMC4165116

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).

Keywords: ALAS2 mutation; GATA1 mutation; dyserythropoiesis; dysmegakaryopoiesis; macrothrombocytopenia; ringed sideroblasts.

Publication types

Case Reports