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  • Title: Congenital sideroblastic anemia: a report of two cases.
    Author: Gupta SK, Rao S, Kar R, Tyagi S, Pati HP.
    Journal: Indian J Pathol Microbiol; 2009; 52(3):424-6. PubMed ID: 19679982.
    Abstract:
    Sideroblastic anemia, comprising of acquired and congenital forms, is a heterogeneous group of disorders characterized by the presence of ring sideroblasts in the bone marrow. Congenital sideroblastic anemia is a rare condition which is mostly X-linked, caused by mutations of delta-aminolevulinic acid synthase 2. We describe two cases of congenital sideroblastic anemia, one of them indicating an autosomal recessive inheritance, with their clinico-hematological profile. It is important to recognize this entity early in life as a significant percentage of cases respond to pyridoxine thus avoiding any long-term complications.
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