Diamond-Blackfan anemia other diagnostic studies
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Overview
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.
Diamond-Blackfan anemia other diagnostic studies
Other genetic tests:
- exome sequencing
- genome sequencing
- mitochondrial sequencing
Other tests
- 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
- 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: