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Apr 14, 2026, 14:43
Chokri Ben Lamine: Diamond – Blackfan Anemia and Congenital Dyserythropoietic Anemia Pearls
Chokri Ben Lamine, Adult Hematology and SCT Assistant Consultant at Oncology Center of Excellence at King Faisal Specialist Hospital and Research Center, shared a post on X:
“Diamond – Blackfan Anemia (DBA) and Congenital Dyserythropoietic Anemia (CDA) Pearls
Diamond – Blackfan Anemia (DBA)
- Pure red cell aplasia presenting in neonates and infants
- Autosomal dominant inheritance
- Common mutation: RPS19 (also RPS24, RPS26)
- Pathophysiology: Ribosomal protein defect leads to impaired erythropoiesis
Clinical Features
- Severe macrocytic anemia with reticulocytopenia
- Craniofacial anomalies
- Skeletal abnormalities
- Congenital cardiac defects
- Urogenital malformations
- Cleft lip and palate
Laboratory and Diagnosis
- Profound anemia with very low reticulocyte count
- Bone marrow: Absence of erythroid precursors
- Elevated erythrocyte adenosine deaminase (eADA)
- Cancer Predisposition
- Osteosarcoma
- Colorectal carcinoma
Management
- Corticosteroids
- Chronic transfusion therapy
- Iron chelation
- Allogeneic hematopoietic stem cell transplantation (HSCT)
Congenital Dyserythropoietic Anemia (CDA)
CDA Type I
- Inheritance: Autosomal recessive
- Presents in childhood or young adulthood
- Skeletal anomalies (e.g., absent phalanx)
- Bone marrow: Binucleated erythroblasts with nuclear bridging
- Osmotic fragility: Normal
- Gene: CDAN1
CDA Type II (HEMPAS)
- Inheritance: Autosomal recessive
- Presents in childhood or young adulthood
- No axial skeletal abnormalities
- Bone marrow: Multinucleated erythroblasts with karyorrhexis
- Osmotic fragility: Increased
- Gene: SEC23B
Credit: Dr. Ahmad Osman, KFSHRC”
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