AI Article Synopsis
- Congenital sideroblastic anemia (CSA) is a rare disorder marked by an accumulation of iron in red blood cell precursors, leading to distinctive features in bone marrow.
- Recent advancements in next-generation sequencing have enhanced the understanding of CSA's genetic and biological mechanisms, identifying three main types of causative genes.
- The clinical manifestations of CSA vary based on specific gene mutations, emphasizing the importance of identifying these mutations for effective diagnosis and treatment strategies.
Article Abstract
Congenital sideroblastic anemia (CSA) is a series of rare, heterogeneous disorders, characterized by iron overload in the mitochondria of erythroblasts and ringed sideroblasts in bone marrow. In recent years, rapid development of next-generation sequencing technology brings great advance in understanding of genetic and pathophysiologic features of CSA. Based on the pathophysiology of mitochondrial iron metabolism, causative genes of CSA can be divided into three subtypes: heme biosynthesis related; iron‑sulfur cluster biosynthesis and transportation related; and mitochondrial respiratory chain synthesis related. Patients with CSA present various clinical manifestation due to relevant mutation gene and require different treatment strategies. The recognition of the causative genes and evolution of pathogenicity is critical. In this review, we summarize the recent progress in mutation genes of CSA, and its potential role in the pathogenesis, diagnosis and treatment.
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| http://dx.doi.org/10.1016/j.gene.2018.05.074 | DOI Listing |
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