Hematology · Hematology / Bone marrow failure
Diamond–Blackfan anemia
also: congenital pure red cell aplasia; DBA
Congenital red cell aplasia presenting in infancy with macrocytic anemia and physical anomalies.
- 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
- Alternative names & eponyms
- congenital pure red cell aplasia; DBA
Etiology & mechanism
Ribosomal protein haploinsufficiency triggers p53-mediated erythroid apoptosis.
Gene(s) involved (17)
Symptoms & signs (9)
In plain terms, someone with Diamond–Blackfan anemia may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
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Shares symptoms with
1 shared
3M syndrome
short stature
1 shared
Aarskog–Scott syndrome
short stature
1 shared
Aase–Smith syndrome
pallor
1 shared
Adams–Stokes syndrome
pallor
1 shared
Andersen–Tawil syndrome
short stature
1 shared
Anomalous left coronary artery from pulmonary artery
pallor
1 shared
Apert syndrome
cleft palate
1 shared
Bamforth–Lazarus syndrome
cleft palate
1 shared
Bloom syndrome
short stature
1 shared
Börjeson–Forssman–Lehmann syndrome
short stature
Shares genes with
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