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Diamond-Blackfan anemia

Diamond-Blackfan anemia (DBA) (previously known as congenital hypoplastic anemia) is the primary congenital form of pure red cell aplasia. It is a rare sporadic genetic form of anemia that typically presents in the first few years of life, and usually only affects cells of the erythroid lineage 2. Although, neutropenia and thrombocytopenia may occasionally be found 1.  The disorder is also associated with an increased risk of acute myeloid leukemia and osteogenic sarcoma 3.

Congenital malformations are often observed 1:

As patients age, they may develop findings from iron overload due to the chronic need for transfusions.

Diamond-Blackfan anemia displays an autosomal dominant inheritance with incomplete penetrance 4. A large number of genetic mutations, especially ribosomal proteins, but also of other key proteins in the early development of the erythroid cell line, resulting in Diamond-Blackfan anemia. This group of affected genes is now collectively known as the DBA-associated genes 6. Mutations of the ribosomal protein S19 (RPS19) gene are the cause of Diamond-Blackfan anemia in approximately 25% of patients 2,6

Diamond-Blackfan anemia was described in 1938 by Louis K Diamond (1902-1999), the "founding father of American pediatric hematology" 7,8, and Kenneth D Blackfan (1883-1941), an American pediatrician 9. The first cases of the condition were actually described in 1936 by another American pediatrician, Hugh W Joseph 8, who worked at Johns Hopkins, in Baltimore, Maryland.

Article information

rID: 53881
Section: Syndromes
Tag: cases, cases
Synonyms or Alternate Spellings:
  • Diamond-Blackfan syndrome
  • Congenital hypoplastic anemia
  • Diamond-Blackfan anaemia (DBA)
  • Pure red cell aplasia (congenital)
  • Diamond Blackfan anemia
  • Congenital pure red cell aplasia
  • Diamond-Blackfan anemia

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Cases and figures

  • Case 1: absent thumb
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