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Diamond-Blackfan anemia

Diamond-Blackfan anemia is an inherited blood disorder that affects the ability of the bone marrow to produce red blood cells. It's characterized by pure red cell aplasia, meaning the bone marrow is unable to generate red blood cells, while other blood cell types are usually normal

Prevalence

600–1,000

US Estimated

800–1,200

Europe Estimated

Age of Onset

Infancy

ICD-10

D61.0

Inheritance Pattern

Autosomal dominant

Autosomal recessive

Mitochondrial/Multigenic

X-linked dominant

X-linked recessive

5 Facts you should know

FACT

Craniofacial anomalies, thumb malformations, and short stature are common physical features, often prompting genetic evaluation in infants with unexplained anemia

FACT

DBA typically presents within the first year of life as macrocytic anemia with reticulocytopenia and normal marrow cellularity but absent erythroid precursors

FACT

More than 50% of cases are linked to mutations in ribosomal protein genes (e.g., RPS19, RPL5), highlighting DBA as a ribosomopathy with defective ribosome biogenesis

FACT

Patients are at elevated risk for malignancies, including acute myeloid leukemia (AML), osteogenic sarcoma, and myelodysplastic syndromes, requiring long-term monitoring

FACT

Management includes corticosteroid therapy, chronic red blood cell transfusions, iron chelation, and hematopoietic stem cell transplantation, which offers curative potential in select cases

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