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GTR Home > Conditions/Phenotypes > Hemoglobin E/beta thalassemia disease

Hemoglobin E/beta thalassemia disease

Synonyms
Beta E thalassemia; Hemoglobin E-beta-thalassemia syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms). [from ORDO]

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

Reviews

Clinical resources

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

Consumer resources

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