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References OMIM Gene GeneReviews HGMD HGNC
last update : 03-07-2009
Symbol DBA3
Location 10q22.3
Name Diamond-Blackfan anemia 3
Corresponding gene RPS24
Main clinical features
  • congenital erythroid aplasia that usually presents in infancy
  • in 30 to 40% of patients other congenital anomalies, particularly of the upper limb and craniofacial regions, including snub noses, thick upper lips, and widely separated eyes
  • Genetic determination autosomal dominant
    Prevalence in approximately 1.4p100 of DBA patients
    Function/system disorder hematology
    Type disease
  • ribosomal disease with abnormal ribosomal biogenesis and, possibly, function
  • impaired translation may be the main cause of DBA pathogenesis
  • primary fibroblasts from DBA patients with truncating mutations in RPS24 have a marked reduction in proliferative capacity (Badhai 2009)