Affiliation:
1. Department of Pathology, Boston Children’s Hospital, Boston, MA
Abstract
Abstract
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.
Publisher
American Society of Hematology
Subject
Cell Biology,Hematology,Immunology,Biochemistry
Reference114 articles.
1. Sideroblasts, siderocytes, and sideroblastic anemia;Cartwright;N Engl J Med,1975
2. The genetics of inherited sideroblastic anemias;Fleming;Semin Hematol,2002
3. Sideroblastic anemia: diagnosis and management;Bottomley;Hematol Oncol Clin North Am,2014
4. The basophilic property of the iron-containing granules in siderocytes;Dacie;J Pathol,1947
5. Iron-staining erythrocytic inclusions with especial reference to acquired haemolytic anaemia;McFadzean;Glasg Med J,1947
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