Conditions / Genetic

Diamond-Blackfan anemia 1

info · Genetic

A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS19 gene on chromosome 19q13.2.

Signs and symptoms

  • Elevated red cell adenosine deaminase activity
  • Increased mean corpuscular volume
  • Macrocytic anemia
  • Small thenar eminence
  • Persistence of hemoglobin F
  • Thrombocytosis
  • Strabismus
  • 11 pairs of ribs
  • Partial duplication of thumb phalanx
  • Retrognathia

Also known as: DBA1; RPS19-related Diamond-Blackfan anemia