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References OMIM Gene GeneReviews HGMD HGNC
last update : 03-07-2009
Symbol DBA4
Location 15q25.2
Name Diamond-Blackfan anemia 4
Corresponding gene RPS17
Main clinical features
  • pure red-cell aplasia with a selective decrease in erythroid precursors
  • normochromic macrocytic anemia with a selective deficiency in red blood cell precursors in otherwise normocellular bone marrow
  • Genetic determination autosomal dominant
    Function/system disorder
    Type disease
  • impaired translation may be the main cause of DBA pathogenesis