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Chokri Ben Lamine: Diamond – Blackfan Anemia and Congenital Dyserythropoietic Anemia Pearls
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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”

Chokri Ben Lamine

More posts featuring Chokri Ben Lamine on Hemostasis Today.

CDA Chokri Ben Lamine Congenital Dyserythropoietic Anemia DBA Diamond-Blackfan Anemia Health Hematology Hemostasis Hemostasis News Hemostasis Today Medicine
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