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Hemoglobin E disease

MedGen UID:
68658
•Concept ID:
C0238159
•
Disease or Syndrome
Synonyms: Hb-E disease; Hemoglobin E Disease; hemoglobin E disease; Hemoglobin E-E disease; Homozygous for Hb E
SNOMED CT: Hemoglobin E disease (25065001); Hemoglobin E-E disease (25065001); Homozygous for Hb E (25065001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016243
Orphanet: ORPHA2133

Definition

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]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHemoglobin E disease
Follow this link to review classifications for Hemoglobin E disease in Orphanet.

Recent clinical studies

Etiology

Impacts of β-thalassemia/hemoglobin E disease on pregnancy outcomes.
Anuruksuwan P, Sirilert S, Luewan S, Tongsong T
Int J Gynaecol Obstet 2024 Jul;166(1):360-367. Epub 2024 Jan 17 doi: 10.1002/ijgo.15360. PMID: 38234105
Pregnancy Outcomes Among Women with Homozygous Hemoglobin E Disease: A Retrospective Cohort Study.
Sirichotiyakul S, Jatavan P, Traisrisilp K, Tongsong T
Matern Child Health J 2016 Nov;20(11):2367-2371. doi: 10.1007/s10995-016-2063-4. PMID: 27456306
Detection of beta-thalassemia/hemoglobin E disease in samples which initially were diagnosed as homozygous hemoglobin E.
Pornprasert S, Moriyama A, Kongthai K, Waneesorn J, Jaiping K, Treesuwan K, Hattori Y
Clin Lab 2013;59(5-6):693-7. doi: 10.7754/clin.lab.2012.120920. PMID: 23865372
Heart failure in beta-thalassemia syndromes: a decade of progress.
Hahalis G, Alexopoulos D, Kremastinos DT, Zoumbos NC
Am J Med 2005 Sep;118(9):957-67. doi: 10.1016/j.amjmed.2005.02.021. PMID: 16164878
Prenatal diagnosis of the fetus at risk for beta-thalassemia/hemoglobin E disease: a report of the first case in Thailand.
Kanokpongsakdi S, Winichagoon P, Fucharoen S, Manassagorn J, Tanphaichitr V
J Med Assoc Thai 1987 Jan;70(1):38-43. PMID: 3572289

Diagnosis

Massive hemothorax due to intrathoracic extramedullary hematopoiesis in a patient with beta thalassemia hemoglobin E disease.
Tantraworasin A, Saeteng S
J Med Assoc Thai 2013 Jul;96(7):866-9. PMID: 24319860
Thrombotic thrombocytopenic purpura in a patient with hemoglobin E disease-the importance of timely examination of a blood film.
Hazarika B, Bain BJ
Am J Hematol 2012 Oct;87(10):996. Epub 2012 Mar 31 doi: 10.1002/ajh.23197. PMID: 22473629
Sickle cell-hemoglobin E disease in an Indian family.
Mukhopadhyay S, Kumar N, Saxena R
Indian J Pathol Microbiol 2001 Oct;44(4):465-6. PMID: 12035368
Prenatal diagnosis of the fetus at risk for beta-thalassemia/hemoglobin E disease: a report of the first case in Thailand.
Kanokpongsakdi S, Winichagoon P, Fucharoen S, Manassagorn J, Tanphaichitr V
J Med Assoc Thai 1987 Jan;70(1):38-43. PMID: 3572289
Thalassemia hemoglobin E disease.
Laxman S, Mathur YC, Chandra H
Indian Pediatr 1970 Feb;7(2):124-6. PMID: 5506679

Therapy

Impacts of β-thalassemia/hemoglobin E disease on pregnancy outcomes.
Anuruksuwan P, Sirilert S, Luewan S, Tongsong T
Int J Gynaecol Obstet 2024 Jul;166(1):360-367. Epub 2024 Jan 17 doi: 10.1002/ijgo.15360. PMID: 38234105
Pregnancy Outcomes Among Women with Homozygous Hemoglobin E Disease: A Retrospective Cohort Study.
Sirichotiyakul S, Jatavan P, Traisrisilp K, Tongsong T
Matern Child Health J 2016 Nov;20(11):2367-2371. doi: 10.1007/s10995-016-2063-4. PMID: 27456306
Effect of cordocentesis on fetal myocardial performance.
Srisupundit K, Tongprasert F, Luewan S, Traisrisilp K, Jatavan P, Tongsong T
Prenat Diagn 2016 Sep;36(9):871-4. Epub 2016 Sep 1 doi: 10.1002/pd.4876. PMID: 27442223
Thrombotic thrombocytopenic purpura in a patient with hemoglobin E disease-the importance of timely examination of a blood film.
Hazarika B, Bain BJ
Am J Hematol 2012 Oct;87(10):996. Epub 2012 Mar 31 doi: 10.1002/ajh.23197. PMID: 22473629
Heart failure in beta-thalassemia syndromes: a decade of progress.
Hahalis G, Alexopoulos D, Kremastinos DT, Zoumbos NC
Am J Med 2005 Sep;118(9):957-67. doi: 10.1016/j.amjmed.2005.02.021. PMID: 16164878

Prognosis

Outcomes of pregnancies complicated by beta-thalassemia/hemoglobin E disease.
Luewan S, Srisupundit K, Tongsong T
Int J Gynaecol Obstet 2009 Mar;104(3):203-5. Epub 2008 Dec 12 doi: 10.1016/j.ijgo.2008.10.012. PMID: 19084837
Heart failure in beta-thalassemia syndromes: a decade of progress.
Hahalis G, Alexopoulos D, Kremastinos DT, Zoumbos NC
Am J Med 2005 Sep;118(9):957-67. doi: 10.1016/j.amjmed.2005.02.021. PMID: 16164878
Clinical manifestation of beta-thalassemia/hemoglobin E disease.
Fucharoen S, Ketvichit P, Pootrakul P, Siritanaratkul N, Piankijagum A, Wasi P
J Pediatr Hematol Oncol 2000 Nov-Dec;22(6):552-7. doi: 10.1097/00043426-200011000-00022. PMID: 11132229
Fetal outcome and childhood mortality in offspring of mothers with sickle cell trait and disease.
Balgir RS, Dash BP, Das RK
Indian J Pediatr 1997 Jan-Feb;64(1):79-84. doi: 10.1007/BF02795781. PMID: 10771816
Maternal and fetal outcome associated with hemoglobin E trait and hemoglobin E disease.
Ong HC
Obstet Gynecol 1975 Jun;45(6):672-4. doi: 10.1097/00006250-197506000-00016. PMID: 1079930

Clinical prediction guides

Effect of cordocentesis on fetal myocardial performance.
Srisupundit K, Tongprasert F, Luewan S, Traisrisilp K, Jatavan P, Tongsong T
Prenat Diagn 2016 Sep;36(9):871-4. Epub 2016 Sep 1 doi: 10.1002/pd.4876. PMID: 27442223
Detection of beta-thalassemia/hemoglobin E disease in samples which initially were diagnosed as homozygous hemoglobin E.
Pornprasert S, Moriyama A, Kongthai K, Waneesorn J, Jaiping K, Treesuwan K, Hattori Y
Clin Lab 2013;59(5-6):693-7. doi: 10.7754/clin.lab.2012.120920. PMID: 23865372
Hemostatic alterations in splenectomized and non-splenectomized patients with beta-thalassemia/hemoglobin E disease.
Tripatara A, Jetsrisuparb A, Teeratakulpisarn J, Kuaha K
Thromb Res 2007;120(6):805-10. Epub 2007 Mar 23 doi: 10.1016/j.thromres.2007.02.006. PMID: 17382994
Labile plasma iron (LPI) as an indicator of chelatable plasma redox activity in iron-overloaded beta-thalassemia/HbE patients treated with an oral chelator.
Pootrakul P, Breuer W, Sametband M, Sirankapracha P, Hershko C, Cabantchik ZI
Blood 2004 Sep 1;104(5):1504-10. Epub 2004 May 20 doi: 10.1182/blood-2004-02-0630. PMID: 15155464
Clinical manifestation of beta-thalassemia/hemoglobin E disease.
Fucharoen S, Ketvichit P, Pootrakul P, Siritanaratkul N, Piankijagum A, Wasi P
J Pediatr Hematol Oncol 2000 Nov-Dec;22(6):552-7. doi: 10.1097/00043426-200011000-00022. PMID: 11132229

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • 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

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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