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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

Clinical utility of combined preimplantation genetic testing methods in couples at risk of passing on beta thalassemia/hemoglobin E disease: A retrospective review from a single center.
Satirapod C, Sukprasert M, Panthan B, Charoenyingwattana A, Chitayanan P, Chantratita W, Choktanasiri W, Trachoo O, Hongeng S
PLoS One 2019;14(11):e0225457. Epub 2019 Nov 21 doi: 10.1371/journal.pone.0225457. PMID: 31751397Free PMC Article
Acute Effects of Blood Transfusion on Insulin Sensitivity and Pancreatic β-Cell Function in Children with β-Thalassemia/Hemoglobin E Disease.
Wankanit S, Chuansumrit A, Poomthavorn P, Khlairit P, Pongratanakul S, Mahachoklertwattana P
J Clin Res Pediatr Endocrinol 2018 Mar 1;10(1):1-7. Epub 2017 Jul 24 doi: 10.4274/jcrpe.4774. PMID: 28739553Free PMC Article
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
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
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

Diagnosis

Compound heterozygosity for hemoglobin S and hemoglobin E in a family of Proto-Australoid origin: a case report.
Basumatary N, Baruah D, Sarma PK, Sarmah J
J Med Case Rep 2021 Aug 2;15(1):386. doi: 10.1186/s13256-021-02974-4. PMID: 34334128Free PMC Article
Acute Effects of Blood Transfusion on Insulin Sensitivity and Pancreatic β-Cell Function in Children with β-Thalassemia/Hemoglobin E Disease.
Wankanit S, Chuansumrit A, Poomthavorn P, Khlairit P, Pongratanakul S, Mahachoklertwattana P
J Clin Res Pediatr Endocrinol 2018 Mar 1;10(1):1-7. Epub 2017 Jul 24 doi: 10.4274/jcrpe.4774. PMID: 28739553Free PMC Article
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
Hemoglobin E disease in North Indian population: a report of 11 cases.
Kishore B, Khare P, Gupta RJ, Bisht S, Majumdar K
Hematology 2007 Aug;12(4):343-7. doi: 10.1080/10245330701255247. PMID: 17654063
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

Therapy

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
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
Allogeneic peripheral blood stem cell transplantation in children with homozygous beta-thalassemia and severe beta-thalassemia/hemoglobin E disease.
Pakakasama S, Hongeng S, Chaisiripoomkere W, Chuansumrit A, Sirachainun N, Jootar S
J Pediatr Hematol Oncol 2004 Apr;26(4):248-52. doi: 10.1097/00043426-200404000-00007. PMID: 15087953
Hydroxyurea increases hemoglobin F levels and improves the effectiveness of erythropoiesis in beta-thalassemia/hemoglobin E disease.
Fucharoen S, Siritanaratkul N, Winichagoon P, Chowthaworn J, Siriboon W, Muangsup W, Chaicharoen S, Poolsup N, Chindavijak B, Pootrakul P, Piankijagum A, Schechter AN, Rodgers GP
Blood 1996 Feb 1;87(3):887-92. PMID: 8562958

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

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
Allogeneic peripheral blood stem cell transplantation in children with homozygous beta-thalassemia and severe beta-thalassemia/hemoglobin E disease.
Pakakasama S, Hongeng S, Chaisiripoomkere W, Chuansumrit A, Sirachainun N, Jootar S
J Pediatr Hematol Oncol 2004 Apr;26(4):248-52. doi: 10.1097/00043426-200404000-00007. PMID: 15087953
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
Hydroxyurea increases hemoglobin F levels and improves the effectiveness of erythropoiesis in beta-thalassemia/hemoglobin E disease.
Fucharoen S, Siritanaratkul N, Winichagoon P, Chowthaworn J, Siriboon W, Muangsup W, Chaicharoen S, Poolsup N, Chindavijak B, Pootrakul P, Piankijagum A, Schechter AN, Rodgers GP
Blood 1996 Feb 1;87(3):887-92. PMID: 8562958

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

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      Clinical tests in GTR
    • PMC Articles
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    • PubMed
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