Severe refractory anemia with ringed sideroblasts and bone marrow aplasia in a child

Victoria L. Castañeda, Thomas E. Williams, James Lloyd Harper, John Graham-Pole, Richard T. Parmley

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Sideroblastic anemia is an extremely rare disorder in children. This report describes a 9-year 4-month-old girl with severe refractory anemia with ringed sideroblasts (RARS) that progressed to severe bone marrow aplasia. Ultrastructural studies revealed the presence of abundant intramitochondrial deposits of iron in erythroblasts similar to that observed in adults with this disorder. Although acid ferrocyanide staining confirmed the ferric valence of the iron deposits, they lacked morphologic and cytochemical characteristics associated with ferritin and hemosiderin. Bone marrow culture showed decreased or absent CFU-GEMM, CFU-GM, CFU-E, and BFU-E. Erythrocyte uroporphyrinogen I synthase, aminolevulinic acid dehydratase, uroporphyrinogen decarboxylase, urinary porphyrins, porphobilinogen, and aminolevulinic acid were normal. Free red cell protoporphyrin was increased. Therapy with corticosteroid and androgens was totally ineffective. The aplastic bone marrow in this child appeared to represent the end stage of RARS and differed from adults with RARS, who more frequently demonstrate a chronic course, often with the onset of leukemia as a terminal sequela. Although this case documents the occurrence of RARS in a child, additional reports of children with this disorder will be required to determine the prognosis and natural history of RARS in children.

Original languageEnglish (US)
Pages (from-to)70-76
Number of pages7
JournalJournal of Pediatric Hematology/Oncology
Volume14
Issue number1
DOIs
StatePublished - Jan 1 1992

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Refractory Anemia
Bone Marrow
Myeloid Progenitor Cells
Granulocyte-Macrophage Progenitor Cells
Erythroid Precursor Cells
Uroporphyrinogen Decarboxylase
Iron
Hydroxymethylbilane Synthase
Porphobilinogen
Sideroblastic Anemia
Porphobilinogen Synthase
Hemosiderin
Erythroblasts
Aminolevulinic Acid
Porphyrins
Ferritins
Natural History
Androgens
Adrenal Cortex Hormones
Leukemia

Keywords

  • Acid ferricyanide
  • Acid ferrocyanide
  • Aplastic anemia
  • Children
  • Electron microscopy
  • Sideroblastic anemia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

Cite this

Severe refractory anemia with ringed sideroblasts and bone marrow aplasia in a child. / Castañeda, Victoria L.; Williams, Thomas E.; Harper, James Lloyd; Graham-Pole, John; Parmley, Richard T.

In: Journal of Pediatric Hematology/Oncology, Vol. 14, No. 1, 01.01.1992, p. 70-76.

Research output: Contribution to journalArticle

Castañeda, Victoria L. ; Williams, Thomas E. ; Harper, James Lloyd ; Graham-Pole, John ; Parmley, Richard T. / Severe refractory anemia with ringed sideroblasts and bone marrow aplasia in a child. In: Journal of Pediatric Hematology/Oncology. 1992 ; Vol. 14, No. 1. pp. 70-76.
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