Diamond–Blackfan anemia

Also known as: congenital pure red cell aplasia; DBA

Congenital red cell aplasia presenting in infancy with macrocytic anemia and physical anomalies.

Medical specialty: Hematology
Subspecialty: Hematology / Bone marrow failure
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, presents before 1 year
Gene(s) involved: GATA1, RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS28, RPS29, RPS7, TSR2

Etiology & mechanism

Ribosomal protein haploinsufficiency triggers p53-mediated erythroid apoptosis.

Gene(s) involved (17)

GATA1RPL11RPL15RPL26RPL27RPL31RPL35ARPL5RPS10RPS17RPS19RPS24RPS26RPS28RPS29RPS7TSR2

Symptoms & signs (9)

cleft palatecongenital heart defectselevated adenosine deaminasemacrocytic anemiaosteosarcoma riskpallorreticulocytopeniashort staturethumb anomalies

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