Diamond-Blackfan syndrome in adult patients.

Abstract

Two adults with pure red cell aplasia are described. No extrinsic etiologic mechanisms were identified. Evidence of anemia was long-standing and varied in severity. Musculoskeletal abnormalities (webbed neck, Sprengel's and Klippel-Feil deformities, and hand abnormalities) were similar to those seen in the congenital form of red cell aplasia (Diamond-Blackfan syndrome). As in the congenital variety, adrenal cortical steroids resulted in hematologic repair. These observations suggest that congenital (Diamond-Blackfan) pure red cell aplasia may be first recognized in adulthood and that steroids provide a potential therapeutic modality.

• Authors: E P Balaban, G R Buchanan, M Graham, E P Frenkel
• Journal: The American journal of medicine (Am J Med) Vol. 78 Issue 3 Pg. 533-8 (Mar 1985) ISSN: 0002-9343 [Print] United States
• PMID: 3919581 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Hemoglobins
• Prednisone

Topics

• Adult
• Aged
• Anemia (blood, congenital, therapy)
• Blood Transfusion
• Bone Marrow (pathology)
• Erythrocyte Count
• Erythrocyte Transfusion
• Female
• Hemoglobins (analysis)
• Humans
• Prednisone (therapeutic use)
• Pregnancy
• Pregnancy Complications, Hematologic (congenital)
• Red-Cell Aplasia, Pure (congenital, therapy)
• Reticulocytes