Haematology

Question 1

Diamond-Blackfan Anaemia

1. Inheritance
2. Pathology
3. Presentation
4. Investigations
5. Mgmt

Answer 1

1. AD
2. Defective ribosomal protein -> erythroid failure
3. Anaemia 2-12 months. 50% have other stuff: bony malformations, growth retardation, snub nose, wide-spaced thumbs
4. Anaemia, High or normal MCV, Low Retics, N Plts, N WBC (but can be low), EPO high, RBC Adenosine Deaminase (ADA) High
5. Corticosteroids, transfuse +iron chelation