Diamond-Blackfan Anemia| Symptoms & Causes

What are the symptoms of Diamond-Blackfan anemia?

Most children experience symptoms very early in life. As a result, Diamond-Blackfan anemia (DBA) is usually diagnosed before a child’s first birthday, though it can appear at any age. The most common symptoms of DBA are:

  • pale skin
  • lack of energy or tiring easily (fatigue); infants may get tired during feeding
  • shortness of breath or difficulty breathing (dyspnea)

About 40 percent of children with DBA may also have one or more of the following physical characteristics:

  • short stature
  • head, face and neck abnormalities
  • thumb defects
  • kidney or heart defects

What are the causes of Diamond-Blackfan anemia?

DBA is a genetic disease that affects the body’s ribosomes, which are small cellular structures that play an important role in building proteins in the body. More than half of children with DBA have ribosomal and non-ribosomal mutations in genes located on more than 11 chromosomes. 

In rare cases, DBA in boys can be due to a mutation in a gene called GATA-1, which controls the earliest steps of red blood cell production.