Diamond-Blackfan anemia

Lydie Da Costa, Thiebaut Noel Willig, Jason Fixler, Narla Mohandas, Gil Tchernia

Research output: Contribution to journalReview articlepeer-review

Abstract

Diamond-Blackfan Anemia (DBA) is a rare, congenital hypoplastic anemia often diagnosed early in infancy. A moderate to severe aregenerative anemia is found in association with erythroblastopenia in an otherwise normocellular bone marrow. In 40% of these infants with DBA, diverse developmental abnormalities are also noted. A majority of patients with DBA respond to steroid therapy. Recent molecular studies have identified mutations in the gene encoding the ribosomal protein RPS19 on chromosome 19 in 25% of patients with DBA. In another subset of patients, linkage analysis has identified another locus on chromosome 8p in association with DBA. There are, however, other cases of DBA that are linked neither to the RPS19 gene nor to the locus on 8p, implying the involvement of yet-to-be-defined genetic defects in the cause of DBA. The pathogenesis of DBA is still to be fully defined and it is anticipated that further molecular studies will lead to a better understanding of this complex disease.

Original languageEnglish (US)
Pages (from-to)10-15
Number of pages6
JournalCurrent opinion in pediatrics
Volume13
Issue number1
DOIs
StatePublished - Feb 10 2001

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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