Diamond-Blackfan Anaemia – Board-Style Questions

What this deck covers

Diamond-Blackfan Anaemia in 18 board-style clinical cases with worked explanations. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong, with the guideline or textbook it follows named on the answer.

Board-style teaching questions for paediatricians and trainees preparing for paediatric board, MRCPCH and licensing examinations. Written from published guidelines and standard paediatric textbooks, with the source named on every answer.

The 18 cases, in order

1. Waiting for the pallor
2. What the aspirate shows
3. Two labels, one tube
4. Before the first bag goes up
5. Still waiting for recovery
6. The rest of the examination
7. What the geneticist found
8. A panel that came back clear
9. Large cells in a well mother
10. Asking for tablets early
11. Three weeks on the tablets
12. Needing more to stay up
13. Counting the units
14. The brother who matched
15. Shorter than his classmates
16. Beyond the blood counts
17. Two more lines falling
18. Twenty weeks and paler

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: In the first year, most often by two or three months, An empty, fat-filled marrow with every line reduced, Serum ferritin with transferrin saturation, Send blood for adenosine deaminase, HbF and genes, Continue transfusing, since recovery can take a year, A brain MRI to look for a structural abnormality, A gene encoding a globin chain of haemoglobin, It means the anaemia will resolve without treatment, She carries the variant, with very mild expression, Start prednisolone now at the full daily trial dose, A fall in her mean cell volume within days, Keep the dose and add growth hormone for his height, Reduce the transfusions to slow the iron loading, Test him for her variant and his adenosine deaminase.

Clinical pearls from this deck

• Diamond-Blackfan anaemia is a disease of infancy: watch the first year closely.
• One line missing from a full marrow: the red cell line.
• An untransfused sample and one enzyme sort the congenital aplasia from the passing one.
• Before donor blood goes in, bottle the evidence.
• A transient aplasia that is not passing was never transient.
• A thumb and a palate point to the heart and kidneys: image both.

Work through the deck once for recognition, then again a week later to test yourself — each question gives the answer and explains why every other option fails.

More from this system: all Haematology case decks · pediatric reference values.