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{{Diamond-Blackfan anemia}} | {{Diamond-Blackfan anemia}} | ||
==Overview== | ===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 | 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]]. | ||
==Diamond-Blackfan anemia other diagnostic studies== | ==Diamond-Blackfan anemia other diagnostic studies== | ||
Other | ===Other tests=== | ||
*[[exome sequencing]] | *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]] | |||
*Diagnosis of related-therapies complications: | ***[[Total T4]] | ||
**Monitoring Transfusional | ***[[TSH]] | ||
***Total T3 | ***[[T3 uptake]] (instead of [[free T4]]) | ||
***Total T4 | ***[[IGF-1]](monitors acute fluctuations in insulin action and determines inadequate [[insulin]] treatment or poor control of dietary intake) | ||
***TSH | ***[[NT-proBNP]] (aids in the [[diagnosis]] of [[left ventricular dysfunction]] in [[heart failure]]) | ||
***T3 uptake (instead of free T4) | ***[[Antithyroid]] [[Antibodies|Abs]] ([[Antithyroglobulin antibody|Antithyroglobulin]] and [[Antithyroperoxidase]]) | ||
***IGF-1(monitors acute fluctuations in insulin action and determines inadequate insulin treatment or poor control of dietary intake) | ***[[Fructosamine]] (useful in situations where the [[A1C]] cannot be reliably measured – as with transfused persons) | ||
***NT-proBNP (aids in the diagnosis of left ventricular dysfunction in heart failure) | ***[[Vitamin D]] | ||
***Antithyroid Abs (Antithyroglobulin and | |||
***Fructosamine (useful in situations where the A1C cannot be reliably measured – as with transfused persons) | |||
***Vitamin D | |||
==References== | ==References== |
Latest revision as of 02:22, 26 September 2020
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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.other tests my be helpful in diagnosis of related-therapies complications such as iron overload.
Diamond-Blackfan anemia other diagnostic studies
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: