Sideroblastic anemia other diagnostic studies: Difference between revisions
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* Urine porphyrin profile may demonstrates | * Urine porphyrin profile may demonstrates | ||
** Erythropoietic porphyria | ** Erythropoietic porphyria | ||
** Patients with ''ALAS2'' defects have both low/normal levels, | |||
** Patients with ''ABCB7'' defects have increased protoporphyrin. | |||
* Serum lead levels, | * Serum lead levels, | ||
** It is increased in sideroblastic anemia secondry to lead toxicity. | ** It is increased in sideroblastic anemia secondry to lead toxicity. | ||
Revision as of 20:20, 8 August 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:
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Overview
Other Diagnostic Studies
Other diagnostic studies for sideroblastic anemia include:
- Urine porphyrin profile may demonstrates
- Erythropoietic porphyria
- Patients with ALAS2 defects have both low/normal levels,
- Patients with ABCB7 defects have increased protoporphyrin.
- Serum lead levels,
- It is increased in sideroblastic anemia secondry to lead toxicity.
- Genetic testing in congenital sideroblasticemias,
- genetic testing is the most definitive means of establishing the specific diagnosis and characterizing the mutation. Genetic testing is performed by DNA sequence analysis using leukocytes from peripheral blood