Patients with DBA may have a positive family history of DBA. The symptomatic onset of Diamond-Blackfan anemia becomes apparent during the first year of life. The most common symptoms of DBA include: fatigue, weakness, and an abnormally pale appearance (pallor). Approximately half of DBA cases have Congenital malformations, in particular craniofacial, upper-limb, heart, and genitourinary malformations.Patients with Non-classic DBA presents with mild or absent anemia with only subtle indications of erythroid abnormalities such as macrocytosis, elevated ADA, and/or elevated HbF concentration, and have mild anemia beginning later, in childhood or in adulthood, while others have some of the physical features but no bone marrow problems. Minimal or no evidence of congenital anomalies or short stature.

Diagnosing DBA is usually hard due to its partial phenotypes and the wide inconsistency of clinical expressions. The International Clinical Consensus Conference stated diagnostic and supporting criteria for the diagnosis of DBA. Based on these criteria, There are two types of Diamond-Blackfan anemia, classical DBA and non-classical DBA. Classical DBA is made in the presence of all the diagnostic criteria and diagnosis of “non-classical DBA” in the presence of one of these criteria: i) Three diagnostic criteria and one major supporting criterion or two minor criteria; ii) Two diagnostic criteria, and three minor supporting criteria; iii) Two major supporting criteria, even in the absence of diagnostic criteria.^[1][2]

• Normochromic, often macrocytic anemia developing in the first year of life
• Profound reticulocytopenia
• Normocellular bone marrow with selective deficiency of erythroid precursors
• Normal or slightly reduced leukocyte count
• Normal or slightly increased platelet count
• Major supporting criteria
  • Gene mutation described in ‘‘classical’’ DBA
  • Positive family history
• Minor supporting criteria
  • Elevated erythrocyte adenosine deaminase activity
  • Congenital anomalies described in ‘‘classical’’ DBA
  • Elevated HbF
  • No evidence of another inherited bone marrow failure syndrome

Patients with DBA may have a positive family history of DBA. The symptomatic onset of Diamond-Blackfan anemia becomes apparent during the first year of life. A positive family history of DBA is suggestive of DBA.

• Symptoms of anemia include fatigue, weakness, and an abnormally pale appearance (pallor).
• The symptomatic onset of Diamond Black-fan anemia becomes apparent during the first year of life
• Approximately half of DBA cases have Congenital malformations, in particular craniofacial, upper-limb, heart, and genitourinary malformations:(observed in ~30%-50%):
  • Microcephaly
  • low frontal hairline
  • Wide-set eyes (hypertelorism)
  • Droopy eyelids (ptosis)
  • Broad, flat bridge of the nose
  • Small, low-set ears
  • Small lower jaw (micrognathia)
  • Cleft palate
  • Cleft lip
  • Short, webbed neck
  • Smaller and higher shoulder blades than usual
  • Malformed or absent thumbs
• All diagnostic criteria are met.

• presents with mild or absent anemia with only subtle indications of erythroid abnormalities such as macrocytosis, elevated ADA, and/or elevated HbF concentration
• Have mild anemia beginning later in childhood or in adulthood, while others have some of the physical features but no bone marrow problems.
• Minimal or no evidence of congenital anomalies or short stature.^[3]