⚠️ Key Point: Diamond-Blackfan Anemia (DBA) is strongly inherited as an autosomal dominant disorder with variable penetrance and expressivity.
ℹ️ About
- 🧒 Red cell failure usually presents before 1 year of age.
- 🧬 Often associated with congenital anomalies.
- 🎗️ Patients have a predisposition to cancer.
📊 Epidemiology
- DBA incidence: ~5–7 per million live births.
- More common in males, but females can also be affected.
🧪 Aetiology
- Haploinsufficiency of ribosomal proteins (small/large subunit).
- Mutations in ribosomal protein genes (e.g. RPS19, RPL5, RPL11).
🩺 Clinical Features
- Severe anaemia within first year of life (macrocytic, reticulocytopenia).
- Short stature in many patients.
- Congenital anomalies ➝ craniofacial, limb, and cardiac defects.
- Rarely hydrops fetalis at birth.
- Increased malignancy risk (esp. AML, osteogenic sarcoma).
⚖️ Differential Diagnoses
- Fanconi Anaemia
- Transient Erythroblastopenia of Childhood
- Myelodysplastic Syndromes
- Other forms of Pure Red Cell Aplasia
- Iron Deficiency Anaemia
🔬 Investigations
- FBC: Macrocytic/normocytic anaemia, low reticulocytes, normal neutrophils & platelets.
- HbF: Elevated in some cases.
- eADA: Elevated erythrocyte adenosine deaminase activity.
- Bone marrow: Normocellular marrow with markedly reduced erythroid precursors.
- Genetic testing: For DBA-associated ribosomal protein genes.
- Immunology: To exclude immune-mediated PRCA.
💊 Management
- 🎯 Accurate diagnosis essential.
- 💉 Regular transfusions + iron chelation ➝ maintain Hb 8–11 g/dL.
- 💊 Corticosteroids: stimulate erythropoiesis (post-transfusion).
- 🧬 HSCT: curative in severe/refractory cases.
- 🩻 Monitor iron overload, congenital anomalies, malignancy risk.
📈 Prognosis
- With treatment ➝ many patients achieve remission and normal RBC production.
- Some require lifelong transfusion/chelation or steroids.
- Chronic risk: malignancy, iron overload, growth delay.
- Outcome depends on mutation, severity, and treatment response.
✅ Conclusion
Diamond-Blackfan Anemia is a rare inherited disorder characterised by red cell aplasia, congenital anomalies, and cancer predisposition.
Management includes transfusions, steroids, iron chelation, and in selected cases stem cell transplantation.
Early diagnosis and long-term surveillance are key to optimising outcomes and quality of life.
📚 References
