What is Diamond-Blackfan anemia?

Diamond-Blackfan anemia is a rare blood disorder in which the bone marrow, the spongy tissue in the center of the bones, does not produce an adequate amount of red blood cells, the cells that carry oxygen to the body. A diagnosis is usually made before the patient’s first birthday, but often times is not made until later in childhood. The disease gets its name from the two doctors who discovered it in the 1930s (Dr. Louis K. Diamond and Dr. Kenneth D. Blackfan).

Who is likely to be affected by Diamond-Blackfan anemia?

There is no group that is more or less prone to Diamond-Blackfan anemia, with the exception of those with a family history.

What causes Diamond-Blackfan anemia?

The disorder is inherited in up to one fourth of the cases. In most cases, the cause is not known. If a parent has Diamond-Blackfan anemia, his or her children have a 50% chance of also having the disorder.

What signs may lead a doctor to suspect Diamond-Blackfan anemia?

The signs are typical of those in patients with anemia – you may feel fatigued, have difficulty breathing, experience dizziness, or have a pale skin tone. A finding that is specific to Diamond-Blackfan anemia is the presence of abnormal features, most often the thumbs. About 25% of patients with Diamond-Blackfan anemia will have abnormal features. Children who are affected tend to be short for their age and may not reach puberty until relatively late.

Last reviewed by a Cleveland Clinic medical professional on 10/17/2018.

References

  • Dianzani I, Loreni F. Diamond-blackfan anemia: a ribosomal puzzle. Haematologica Nov 2008, 93 (11) 1601-1604.
  • Vlachos A, Blanc L, Lipton JM. Diamond blackfan anemia: a model for the translational approach to understanding human disease. Expert Rev Hematol. 2014 Jun;7(3):359-72.
  • Genetic and Rare Diseases Information Center. Diamond-blackfan anemia. Accessed 10/18/2018.

Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy