Curriculum · Hematology
Diamond-Blackfan anaemia
What it is
Diamond-Blackfan anemia (DBA) is a congenital pure red blood cell aplasia, also known as congenital hypoplastic anemia. The question that names it is put as one line: what non-megaloblastic macrocytic anemia presents with rapid-onset anemia within the 1st year of life?
How it presents
It presents in infancy with:
- Macrocytic (non-megaloblastic) anemia in infancy or early childhood, usually diagnosed before one year of age
- Pallor in infancy
- Congenital malformations (50%): microcephaly, hypertelorism, flat nasal bridge, micrognathia, short stature, webbed neck, cleft palate, and triphalangeal thumbs
The thumb is the one to look for. Triphalangeal thumb, macrocytic anemia, reticulocytopenia, normal platelets and WBC counts together name Diamond-Blackfan anemia.
What the blood and the electrophoresis show
The anemia is macrocytic and non-megaloblastic, with reticulocytopenia, while platelets and WBC counts stay normal. Electrophoresis reveals elevated fetal Hb levels, which is what a congenital pure red cell aplasia would give.