Abstract
Extract: The activities of δ-aminolevulinic acid (ALA) synthetase and ALA dehydratase in cord blood erythrocytes of newborn infants and peripheral blood red cells of patients with β-thalassemia major, β-thalassemia intermedia, hemoglobin Köln (Hb Köln) disease, sickle cell anemia, and pyruvate kinase deficiency were studied. The activity of ALA dehydratase did not vary appreciably with the number of immature RBC (reticulocytes and nucleated red blood cells) or the severity of the hemolytic anemia except in pyruvate kinase deficiency. The activity of ALA synthetase was linearly correlated with the number of immature RBC (r = 0.974, p < 0.001). The ALA synthetase activity was significantly decreased in the RBC of Hb Köln (p < 0.01) when compared with the activity in immature RBC of newborns and of patients with pyruvate kinase deficiency, sickle cell anemia, and thalassemia intermedia.
Speculation: The decreased activity of ALA synthetase activity in thalassemia major and Hb Köln is postulated to be secondary to feedback inhibition of heme. The site of feedback inhibition is not at the RBC membrane but could be directly on ALA synthetase itself or at its synthetic step.
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Kolski, G., Miller, D. Heme Synthesis in Hereditary Hemolytic Anemias: Decreased δ-Aminolevulinic Acid Synthetase in Hemoglobin Köln Disease. Pediatr Res 10, 702–706 (1976). https://doi.org/10.1203/00006450-197607000-00014
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DOI: https://doi.org/10.1203/00006450-197607000-00014