Congenital sideroblastic anemia: A report of two cases

Department of Hematology, IRCH, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.
Indian Journal of Pathology and Microbiology (Impact Factor: 0.47). 07/2009; 52(3):424-6. DOI: 10.4103/0377-4929.55015
Source: PubMed


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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