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.

Clinical presentation

Congenital malformations are often observed ¹:

• craniofacial: microcephaly, micrognathia, hypertelorism, microtia, cleft lip and palate
• eyes: congenital cataract, glaucoma, strabismus, amblyopia
• neck: small webbed neck
• cardiac: atrial septal defect, ventricular septal defect
• genitourinary: horseshoe kidney, hypospadias, absent kidney
• upper limb: absent thumb, hypoplastic thumbs, triphalangeal thumb

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

Pathology

Genetics

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. 

History and etymology

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.