How is Diamond-Blackfan anemia diagnosed?

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How is Diamond-Blackfan anemia diagnosed?

If Diamond-Blackfan anemia is suspected based on your symptoms and a physical examination, a complete blood count (CBC) may be done. The CBC includes measures of:

  • Hemoglobin, the oxygen-carrying protein in red blood cells
  • Hematocrit, which is the volume of red blood cells in blood
  • Quantity (and size) of red blood cells
  • Quantity of white blood cells
  • Quantity of platelets

Low levels of any of these blood components may signal anemia.

A reticulocyte count, a measure of young red blood cells, may indicate that your bone marrow is not producing an adequate number of red blood cells.

A bone marrow aspiration and biopsy (removing a small amount of the liquid portion of bone marrow through a needle) along with genetic testing can confirm the diagnosis. If upon examination under a microscope the number of red cells in these samples is abnormally low, a diagnosis may be established.

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