Diamond-Blackfan anemia

Question 1

What are clinical features of Diamond-Blackfan anemia?

Answer 1

Clinical features:
1. Pallor, weakness, FTT
2. FTT (30%)
3. Congenital malformations (~30-50%) esp. craniofacial, upper-limb, heart, GU malformations
Laboratory features:
1. Macrocytic, normochromic anemia with no other significant cytopenias
2. Reticulocytopenia
3. Elevated eADA activity (80-85%)
4. Elevated HbF concentration
Histopathology features (bone marrow aspirate):
1. Normal marrow cellularity
2. Erythroid hypoplasia
3. Marked reduction in normoblasts
4. Persistence of pronormoblasts on occasion
5. Normal myeloid precursors and megakaryocytes

Question 2

What is the inheritance pattern of Diamond-Blackfan anemia?

Answer 2

AD