A Case of Primary Aquired Sideroblastic Anemia with Deficient δ-Aminolevulinic Acid Synthetase Activity in Bone Marrow Erythroblasts

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Abstract
A case of primary acquired sideroblastic anemia is described, in whom erythroblasts showed markedly reduced δ-aminolevulinic acid synthetase activity. The patient, 68-year-old Japanese female, was admitted with a history of anemia and congestive heart failure of 3 year duration. By hematological study, marked hypochromic anemia without apparent morphologic aberration was noted. Examination of bone marrow disclosed the intensive erythroid hyperplasia with minor megaloblastoid changes and maturation arrest. Iron stores in bone marrow were greatly increased with predominating sideroblasts. Serum iron was elevated and ferrokinetic study indicated normal rate of iron clearance and depressed red cell iron utilization. In the studies on porphyrin metabolism, incorporation of 14C-glycine into heme and activity of S-aminolevulinic acid (ALA) synthetase were found to be greatly reduced. Although there have been several reports on the defects in the heme synthetic pathway in sideroblastic anemia, this is a first case of sideroblastic anemia with deficient ALA synthetase activity demonstrated by a direct method.

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