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At a glance

A congenital hypoplastic anemia manifesting in the first year of life, often good response to corticosteroids, but increased risk for leukemia and other cancers.


Diamond-Blackfan Anemia; Congenital Hypoplastic Anemia; Congenital Pure Red Cell Anemia/Aplasia; Chronic Congenital Aregenerative Anemia; Chronic Erythroblastopenia; Constitutional Erythroid Hypoplasia; Erythrogenesis Imperfecta; Estren-Dameshek Variant of Fanconi Anemia.


The first description of the disorder is credited (by L. K. Diamond himself) to the American pediatrician Hugh W. Josephs, who published his findings in 1936. However, the syndrome is named after the two American pediatricians Louis Klein Diamond (1902-1999) and Kenneth Daniel Blackfan (1883-1941), whose publication appeared in 1938. On that paper, Diamond is the first author, but Blackfan was his chief and mentor at that time at Harvard University. This probably explains why the order of the names of the disease is often seen reversed.


Several hundred cases have been reported in the literature. The incidence is approximately 4 to 8:1,000,000 live births with both sexes being equally affected.

Genetic inheritance

In up to 45% autosomal dominant, but a significant number of sporadic cases as well as some with autosomal recessive transmission (with parental consanguinity being a risk factor) have also been reported. Approximately 25% of cases can be linked to mutations of the ribosomal protein S19 (RPS19) gene, which has been mapped to chromosome 19q13.2. Several (>10) other mutated ribosomal protein genes on different chromosomes have been identified in the pathogenesis of BDS, but are much less common than RPS19. Basically, all mutations associated with BDS have been traced back to these ribosomal protein genes that result in a pre-ribosomal RNA maturation defect, explaining why BDS is considered a “ribosomopathy.” However, in approximately 30% of patients diagnosed with BDS, no mutation can be found in any of the genes linked to BDS.

Blackfan-Diamond Syndrome: Seven-month-old boy with Blackfan-Diamond syndrome has anomalies of the ear and a short neck because of fusion of the cervical vertebrae.


Based initially on the clinical findings, laboratory tests, and bone marrow aspirate. Classic BDS is diagnosed before the age of 1 year and characterized by isolated macrocytic anemia with reticulocytopenia and normal bone marrow cellularity with decreased erythroid precursors. These findings are supported by a positive family history, presence of congenital anomalies (see “Clinical features”), elevated hemoglobin F (HbF), increased activity of erythrocyte adenosine deaminase (eADA), absence of other inherited bone marrow failure syndromes and finally confirmation of the genetic mutation. However, due to the different mutations involved in BDS, the clinical picture is highly variable, ie, not always “classical,” which sometimes makes diagnosis challenging. A Parvovirus B19-infection and transient erythroblastopenia of childhood (see ...

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