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

Labs:
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.

Differential:
Transient erythroblastopenia of childhood (TEC)

Treatment:
Steroids

Mnemonic:
Diamond - Fingers association
Black - No RED blood cells


That's all!
-IkaN

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