title: Congenital sideroblastic anemia: a report of two cases.
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.
authors.affiliation: Department of Hematology, IRCH, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India. drskgupta@rediffmail.com
authors.forename: Sanjeev Kumar
authors.initials: SK
authors.lastname: Gupta
authors.forename: Seema
authors.initials: S
authors.lastname: Rao
authors.forename: Rakhee
authors.initials: R
authors.lastname: Kar
authors.forename: Seema
authors.initials: S
authors.lastname: Tyagi
authors.forename: Hara Prasad
authors.initials: HP
authors.lastname: Pati
mesh_terms: D000756:Anemia, Sideroblastic / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D001853:Bone Marrow / Q000473:pathology*; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D008297:Male