Diamond-Blackfan Anaemia

Diamond-Blackfan Anaemia (DBA) is an inherited disease characterized by reduced erythroblast production   (immature state of red blood cells) and severe anaemia appearing in early life (usually before the age of 2 years). The severe anaemic syndrome is not associated with enlarged organs or with the involvement of other haematopoietic cell lines (leukocytes and platelets). The diagnosis is based on familial history (10-20%) or on associated malformations (40%). Elevated erythrocyte adenosine deaminase (ADA) is a frequent but non-specific sign. Ribosomal protein S19 gene mutation has been associated with Diamond-Blackfan anaemia (DBA). Treatment options of this disorder are regular transfusions or long-term corticosteroids depending on each particular case. In very severe cases, bone-marrow transplantation may be curative.

Synonym: Blackfan-Diamond Anaemia