U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Hemoglobin E disease

Summary

Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation. [from ORDO]

Available tests

4 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Practice guidelines

  • ACMG ACT, 2023
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, FE, Hemoglobin EE or Hemoglobin E/Beta Zero Thalassemia (Hb EE or Hb E/ß0 Disease), 2023
  • ACMG ACT, 2023
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, FEA, Hemoglobin E/Beta Plus Thalassemia, 2023
  • ACMG Algorithm, 2023
    American College of Medical Genetics Algorithm, FE, FEA: Hemoglobin E Screening Results, 2023
  • ACMG Algorithm, 2009
    American College of Medical Genetics and Genomics, Algorithm, Hb Screening (non-S), 2009

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.