Sideroblastic anemia other diagnostic studies
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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