Sideroblastic anemia 2
- Synonyms
- Anemia, sideroblastic, 2, pyridoxine-refractory; Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
Available tests
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Anemia
Anemia
- MedGen UID: 1526
- Concept ID: C0002871
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Decreased mean corpuscular volume
Decreased mean corpuscular volume
- MedGen UID: 1375398
- Concept ID: C0855790
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Hypochromia
Hypochromia
- MedGen UID: 87187
- Concept ID: C0333912
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Sideroblastic anemia
Sideroblastic anemia
- MedGen UID: 8067
- Concept ID: C0002896
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Anemia
- Abnormality of metabolism/homeostasis
- Elevated transferrin saturation
Elevated transferrin saturation
- MedGen UID: 868498
- Concept ID: C4022892
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased circulating ferritin concentration
Increased circulating ferritin concentration
- MedGen UID: 69130
- Concept ID: C0241013
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated transferrin saturation
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.