A Family of Hereditary Refractory Sideroblastic Anemia with Markedly Reduced δ-Aminolevulinic Acid Synthetase Activity in Bone Marrow Erythroblasts.

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  • 骨髄赤芽球のδ-Aminolevulinic Acid Synthetase活性の著明な低下のみられたHereditary Refractory Sideroblastic Anemiaの1家系
  • コツズイ セキガキュウ ノ デルタ Aminolevulinic Acid S

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Description

Two siblings with hereditary refractory sideroblastic anemia were described. The propositus, 20-year-old male, had been noticed of pale face since 9 years of age. He was admitted to the Chukyo Hospital in Oct. 1973, with complaints of exertional dyspnea and general fatigue. Marked hypochromic anemia with peripheral red blood cell count of 3.33 millions and hemoglobin level of 4.8 g/dl showing apparent dimorphism of red cells were found by laboratory examination. Leukocyte and platelet counts were within normal limits. A bone marrow examination showed erythroid hyperplasia with 38% ringed sideroblasts.<br>Serum iron was as high as 226 μg/dl and unsaturated iron binding capacity was 30 μg/dl. Ferrokinetic study revealed rapid plasma iron disappearance with reduced red cell utilization, a pattern of ineffective erythropoiesis. A liver biopsy disclosed marked iron deposition. The patient responded partially to pyridoxine with an increase of red cell count up to 5.1 millions and hemoglobin level to 8.2 g/dl, but without further improvement by continued pyridoxine administration.<br>An elder brother of the propositus showed moderate hypochiomic anemia with increased ringed sideroblasts in the bone marrow.<br>Based on the results that activities of δ-aminolevulinic acid synthetase of marrow erythroblasts of the propositus and of the elder brother were markedly and moderately reduced, respectively, the significance of the enzyme defect in the pathogenesis of hereditary sideroblastic anemia was suggested.

Journal

  • Rinsho Ketsueki

    Rinsho Ketsueki 17 (1), 45-50, 1976

    The Japanese Society of Hematology

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