U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Megaloblastic anemia, folate-responsive

Megaloblastic anemia, folate-responsive

Synonyms
Folate level in erythrocytes

Summary

Folate-responsive megaloblastic anemia (MEGAF) is an autosomal recessive metabolic disorder characterized by megaloblastic anemia resulting from decreased folate transport into erythrocytes. Although serum levels of folate are normal, there is folate deficiency in tissues, including erythrocytes and possibly nerve cells. Serum homocysteine levels are increased and vitamin B12 levels may be decreased. Treatment with oral folate corrects the anemia and normalizes homocysteine (summary by Svaton et al., 2020) [from OMIM]

Available tests

1 test is in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CHMD, FOLT, IFC-1, IFC1, IMD114, MEGAF, REFC, RFC, RFC1, RFT-1, hRFC, hSLC19A1, SLC19A1
    Summary: solute carrier family 19 member 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

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.