Thursday, December 15, 2016

Diamond blackfan anemia notes and mnemonic

Diamond blackfan anemia
It is congenital pure red cell aplasia.

Clinical features:
Triphalangeal thumb
Supernumerary thumbs
Craniofacial dysmorphism (snub nose, wide set eyes, think upper lip)
Short stature

Low hemoglobin level
Low reticulocyte count
Macrocytic anemia (No hypersegmented neutrophils, normal B9, B12, no evidence of parvovirus B19 infection)
Elevated ADA
Elevated hemoglobin F

DBS: Double Blood cell Size - Macrocytic anemia.

Transient erythroblastopenia of childhood (TEC)


Diamond - Fingers association
Black - No RED blood cells

That's all!


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