Congenital Hypoplastic Anaemia (Diamond-Blackfan Anaemia)

A boy of 2 months presented with persistant pallor and growth failure. He is normally delivered and breast fed.

He has no craniofacial deformity, limb anomalies or cardiac malformations. He has no lymphadenopathy or any other organomegaly.

On investigation, his Hb was 4.1 gm/dl, ESR -27 mm in 1st hr, platelet 1,86,000/cmm, Total RBC 3 m/cmm, Total WBC 4600/cmm, Neurophil-38%, Lympho-56%, Mono 04%, Eosini02%, Baso-00%.
Peripheral blood ilm shows anisochromia and anisocytosis with low distribution,WBC -mature and normal count and distribution, platelets are normal.
Bore marrow shows hypercellular marrow with increased M: E ratio. Erythropoesis is grossly depressed. Only occassional megaloid erythroblasts are seen.
Granulopoesis is hyperactive and maturing into segmented forms. Histocytes are increased.
Lymphocytes and plasma cell are within normal limit. Megakaryocytes are normal. The bone marrow is suggestive of Pure Red Cell apasia.

The case may be lebelled as Congenital Hypoplastic Anaemia or Diamond-Blackfan Anaemia.



Badrud Doza