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  • Title: Congenital sideroblastic anemia of a Saudi child.
    Author: ALBagshi MH, Saloma SH, Albagshi HM.
    Journal: Sudan J Paediatr; 2017; 17(1):49-51. PubMed ID: 29213171.
    Abstract:
    Sideroblastic anemia is a heterogeneous group of disorders characterized by the presence of ring sideroblasts in the bone marrow, and has congenital and acquired forms. Congenital sideroblastic anemia is a rare condition, which is mostly X-linked, caused by mutations of delta-aminolevulinic acid synthase 2. We describe one case of congenital sideroblastic anemia, indicating an autosomal recessive inheritance, with its 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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