Bone marrow delta-aminolaevulinate synthase deficiency in a female with congenital sideroblastic anemia

G. R. Buchanan, S. S. Bottomley, R. Nitschke

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Heme biosynthesis was examined in erythroid tissue of a 4-yr-old girl with severe sideroblastic anemia since infancy, as documented by the presence of intramitochondrial deposits of iron in erythroblasts. Free red cell protoporphyrin, urinary porphyrins, and activities of erythrocyte porphobilinogen synthase, uroporphyrinogen I synthase, aspartate aminotransferase, and pyridoxine kinase were normal or increased. Bone marrow ferrochelatase activity was normal. Activity of bone marrow delta-aminolaevulinate (ALA) synthetase was markedly reduced to 7 pmole ALA/106 erythroblast/30 min (normal 127 ± 29) but was enhanced fivefold by pyridoxal phosphate (normal 0%-25% increase). Therapy with oral pyridoxine and parenteral pyridoxal-5'-phosphate did not increase effective red cell production. The sideroblastic anemia in this patient appears to be related to a congenital defect in the initial step of heme biosynthesis.

Original languageEnglish (US)
Pages (from-to)109-115
Number of pages7
JournalBlood
Volume55
Issue number1
StatePublished - 1980

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Sideroblastic Anemia
Erythroblasts
Pyridoxal Phosphate
Biosynthesis
Heme
Pyridoxal Kinase
Bone
Aspartate Kinase
Hydroxymethylbilane Synthase
Bone Marrow
Ferrochelatase
Cells
Porphobilinogen Synthase
Glycogen Synthase
Pyridoxine
Porphyrins
Ligases
Aspartate Aminotransferases
Deposits
Iron

ASJC Scopus subject areas

  • Hematology

Cite this

Bone marrow delta-aminolaevulinate synthase deficiency in a female with congenital sideroblastic anemia. / Buchanan, G. R.; Bottomley, S. S.; Nitschke, R.

In: Blood, Vol. 55, No. 1, 1980, p. 109-115.

Research output: Contribution to journalArticle

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abstract = "Heme biosynthesis was examined in erythroid tissue of a 4-yr-old girl with severe sideroblastic anemia since infancy, as documented by the presence of intramitochondrial deposits of iron in erythroblasts. Free red cell protoporphyrin, urinary porphyrins, and activities of erythrocyte porphobilinogen synthase, uroporphyrinogen I synthase, aspartate aminotransferase, and pyridoxine kinase were normal or increased. Bone marrow ferrochelatase activity was normal. Activity of bone marrow delta-aminolaevulinate (ALA) synthetase was markedly reduced to 7 pmole ALA/106 erythroblast/30 min (normal 127 ± 29) but was enhanced fivefold by pyridoxal phosphate (normal 0{\%}-25{\%} increase). Therapy with oral pyridoxine and parenteral pyridoxal-5'-phosphate did not increase effective red cell production. The sideroblastic anemia in this patient appears to be related to a congenital defect in the initial step of heme biosynthesis.",
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N2 - Heme biosynthesis was examined in erythroid tissue of a 4-yr-old girl with severe sideroblastic anemia since infancy, as documented by the presence of intramitochondrial deposits of iron in erythroblasts. Free red cell protoporphyrin, urinary porphyrins, and activities of erythrocyte porphobilinogen synthase, uroporphyrinogen I synthase, aspartate aminotransferase, and pyridoxine kinase were normal or increased. Bone marrow ferrochelatase activity was normal. Activity of bone marrow delta-aminolaevulinate (ALA) synthetase was markedly reduced to 7 pmole ALA/106 erythroblast/30 min (normal 127 ± 29) but was enhanced fivefold by pyridoxal phosphate (normal 0%-25% increase). Therapy with oral pyridoxine and parenteral pyridoxal-5'-phosphate did not increase effective red cell production. The sideroblastic anemia in this patient appears to be related to a congenital defect in the initial step of heme biosynthesis.

AB - Heme biosynthesis was examined in erythroid tissue of a 4-yr-old girl with severe sideroblastic anemia since infancy, as documented by the presence of intramitochondrial deposits of iron in erythroblasts. Free red cell protoporphyrin, urinary porphyrins, and activities of erythrocyte porphobilinogen synthase, uroporphyrinogen I synthase, aspartate aminotransferase, and pyridoxine kinase were normal or increased. Bone marrow ferrochelatase activity was normal. Activity of bone marrow delta-aminolaevulinate (ALA) synthetase was markedly reduced to 7 pmole ALA/106 erythroblast/30 min (normal 127 ± 29) but was enhanced fivefold by pyridoxal phosphate (normal 0%-25% increase). Therapy with oral pyridoxine and parenteral pyridoxal-5'-phosphate did not increase effective red cell production. The sideroblastic anemia in this patient appears to be related to a congenital defect in the initial step of heme biosynthesis.

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