【摘 要】
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There are two general forms of sideroblastic anemia, namely congenital sideroblastic anemia (CSA) and acquired sideroblastic anemia.The CSAs are a group of
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There are two general forms of sideroblastic anemia, namely congenital sideroblastic anemia (CSA) and acquired sideroblastic anemia.The CSAs are a group of diseases caused by mutations in genes involved in heme biosynthesis, iron-sulfur cluster biogenesis, mitochondrial solute transport or mitochondrial protein synthesis.To date, nine forms of CSA have been characterized.In a previous work, we established a genotype-phenotype correlation in Chinese X-linked sideroblastic anemia patients (Liu et al.Haematologica, 2013) and described the pathogenic mutations in first four Chinese thiamine-responsive megaloblastic anaemia patients (Liu et al.Blood Cell Mol Dis, 2013).
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