Diamond – Blackfan Anaemia

  • Congenital hypoplastic anemai
  • Normocytic anemia with Hb ~ 3-4g
  • Normal platelets & wbc

Associations

  • Thumb annomalies
  • Radial hemimelia
  • Klippel Feil
  • Sprengels
  • Hypoplasia  of the first ray
  • Cleft pallet
  • Small Jaw
  • Renal Anomalies

Presentation

  • Clinical presentation is at 3-6 months with listless, irritable child

Treatment

  • Steroids
  • Transfusion