The molecular genetics of sideroblastic anemia

• Published in: Blood Vol. 133; no. 1; pp. 59 - 69
• Main Authors: Ducamp, Sarah, Fleming, Mark D.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 03.01.2019; American Society of Hematology
• Subjects: Anemia, Sideroblastic - genetics; Anemia, Sideroblastic - metabolism; Anemia, Sideroblastic - pathology; Erythroid Precursor Cells - pathology; Genetic Diseases, X-Linked - genetics; Genetic Diseases, X-Linked - metabolism; Genetic Diseases, X-Linked - pathology; Humans; Iron - metabolism; Iron Metabolism and Its Disorders; Review Series
• ISSN: 0006-4971; 1528-0020
• DOI: 10.1182/blood-2018-08-815951

The sideroblastic anemias (SAs) are a group of inherited and acquired bone marrow disorders defined by pathological iron accumulation in the mitochondria of erythroid precursors. Like most hematological diseases, the molecular genetic basis of the SAs has ridden the wave of technology advancement. Within the last 30 years, with the advent of positional cloning, the human genome project, solid-state genotyping technologies, and next-generation sequencing have evolved to the point where more than two-thirds of congenital SA cases, and an even greater proportion of cases of acquired clonal disease, can be attributed to mutations in a specific gene or genes. This review focuses on an analysis of the genetics of these diseases and how understanding these defects may contribute to the design and implementation of rational therapies.