Hematology Flashcards
1
Q
Describe CP, INV and TTT of Diamond-Blackfan anemia
A
It is a AD, AR (A) and XLR (B) pure red cell aplasia, it is a bon marrow failure syndorme (F) due to defective decreased RBCs production (D)
CP:
1. Intractable anemia and pallor starting at 2-6 m (av 3 yrs) (I)
2. No HSM
3. Associated with other congenital anomalies in 25% of cases (midline defects, ASD, VSD, kidney anomalies) (MAK)
INV:
1. Macrocytic anemia (M) with reticulocytopenia (R), normal plt and wbcs (N)
2. BMB: absence of erythroid precusors (M, A)
3. Chromosomal studies are normal
4. For potential malignancy AML, ALL, HCC (M,N)
TTT: transfusiion, BMT (B), CCS (C)
