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Indian J Pathol Microbiol. 2009 Jul-Sep;52(3):424-6. doi: 10.4103/0377-4929.55015.

Congenital sideroblastic anemia: a report of two cases.

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  • 1Department of Hematology, IRCH, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.


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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