Diamond-Blackfan anemia other diagnostic studies

Additional blood tests or genetic tests such as exome sequencing, genome sequencing, and mitochondrial sequencing may be ordered to rule out other types of anemia.other tests my be helpful in diagnosis of related-therapies complications such as iron overload.

• Additional blood tests or genetic tests such as exome sequencing, genome sequencing, and mitochondrial sequencing may be ordered to rule out other types of anemia or other disorders.
• Diagnosis of related-therapies complications such as iron overload:
  • Monitoring Transfusional iron overload with serum ferritin and Iron level. Here is a list of recommended labs to monitor and prevent the devastating effects of iron overload in the thyroid, heart, and the effects of diabetes:
    • Total T3
    • Total T4
    • TSH
    • T3 uptake (instead of free T4)
    • IGF-1(monitors acute fluctuations in insulin action and determines inadequate insulin treatment or poor control of dietary intake)
    • NT-proBNP (aids in the diagnosis of left ventricular dysfunction in heart failure)
    • Antithyroid Abs (Antithyroglobulin and Antithyroperoxidase)
    • Fructosamine (useful in situations where the A1C cannot be reliably measured – as with transfused persons)
    • Vitamin D