Congenital hypoplastic anemia (Diamond-Blackfan syndrome) terminating in acute myelogenous leukemia

J. S. Wasser, R. Yolken, D. R. Miller, L. Diamond

Research output: Contribution to journalArticlepeer-review

22 Scopus citations


A 31-yr-old female with congenital hypoplastic anemia (Diamond-Blackfan syndrome) whose long course terminated in acute myelogenous leukemia is described. In contrast to Fanconi anemia, malignant transformation rarely occurs in congenital hypoplastic anemia. This patient's diagnosis of congenital hypoplastic anemia is supported by her clinical course, absence of renal abnormalities, a negative family history for hematologic disorders, normal chromosome studies, failure of her skin fibroblasts to transform in culture with SV-40 virus, macrocytic erythrocyte indices, erythrocyte enzyme studies, and bone marrow findings. Only 2 other cases of malignancy have been reported in patients with congenital hypoplastic anemia. The development of malignancy in these patients suggests that malignant transformation may be a concern in the long-term progression of congenital hypoplastic anemia.

Original languageEnglish (US)
Pages (from-to)991-995
Number of pages5
Issue number5
StatePublished - 1978
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology


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