Familial sideroblastic anemia associated with cardiac atrial septal defect

Abstract

Sideroblastic anemia (SA) is defined by the presence of ringed sideroblasts in the bone marrow, and may be due to both hereditary and acquired causes. The most common hereditary form is X-linked SA (XLSA), which is due to mutations in the erythroid-specific 5-aminolevulinate synthase gene (ALAS2) [1,2] and occurs predominantly in men [3]. Another form of XLSA, X-linked SA and ataxia, is due to mutations in the mitochondrial ATP binding cassette transporter ABCB7 [4,5]. Other syndromic forms are inherited in an autosomal recessive manner (thiamine-responsive megaloblastic anemia with diabetes and deafness [6]; mitochondrial myopathy, lactic acidosis and SA [7,8]) or result from sporadic congenital defects in mitochondrial DNA (Pearson marrow pancreas syndrome) [9].