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CASE REPORT
Year : 2009  |  Volume : 52  |  Issue : 3  |  Page : 424-426

Congenital sideroblastic anemia: A report of two cases


Department of Hematology, IRCH, All India Institute of Medical Sciences, Ansari Nagar, New Delhi -110 029, India

Correspondence Address:
Sanjeev Kumar Gupta
B-1/226, Yamuna Vihar, Delhi - 110 053
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0377-4929.55015

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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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