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