[Diamond-Blackfan anemia. Case report]

Rev Med Chir Soc Med Nat Iasi. 2010 Apr-Jun;114(2):420-3.
[Article in Romanian]

Abstract

Diamond-blakfan anemia (DBA) is a rare condition in pediatric pathology, with more than 500 cases described in literature. It is a congenital eritroblastopenia, with AD/AR/ X-linkage inheritance, 90% were diagnosed by one year of age. Physical appearances were abnormal only in 29%. The current recommendations are corticosteroids, with suportive treatment and bone marrow transplantation. In general, DBA remains a single cytopenia. Long term prognosis remains uncertain, DBA is a preleukemia condition. We present two cases that we took care of in our clinics.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Anemia, Diamond-Blackfan / diagnosis*
  • Anemia, Diamond-Blackfan / drug therapy
  • Anemia, Diamond-Blackfan / genetics
  • Benzoates / therapeutic use
  • Blood Transfusion
  • Cardiomyopathy, Dilated / diagnosis
  • Deferasirox
  • Deferoxamine / therapeutic use
  • Drug Therapy, Combination
  • Female
  • Glucocorticoids / therapeutic use
  • Hepatomegaly / diagnosis
  • Humans
  • Infant
  • Iron Chelating Agents / therapeutic use
  • Male
  • Prognosis
  • Siderophores / therapeutic use
  • Splenomegaly / diagnosis
  • Testosterone Congeners / therapeutic use
  • Treatment Outcome
  • Triazoles / therapeutic use

Substances

  • Benzoates
  • Glucocorticoids
  • Iron Chelating Agents
  • Siderophores
  • Testosterone Congeners
  • Triazoles
  • Deferoxamine
  • Deferasirox