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Hemoglobin E/beta thalassemia disease

MedGen UID:
632783
•Concept ID:
C0472777
•
Disease or Syndrome
Synonyms: Beta E thalassemia; Hemoglobin E-beta-thalassemia syndrome
SNOMED CT: Hemoglobin E/beta thalassemia disease (234392002); Double heterozygous for Hb E and beta thalassemia (234392002)
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:0016491
OMIM®: 141900
Orphanet: ORPHA231249

Definition

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]

Term Hierarchy

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

Recent clinical studies

Etiology

Hypercoagulable state as demonstrated by thromboelastometry in hemoglobin E/beta-thalassemia patients: Association with clinical severity and splenectomy status.
Natesirinilkul R, Charoenkwan P, Nawarawong W, Boonsri S, Tantivate P, Wongjaikum S, Manowong S, Sanguansermsri T
Thromb Res 2016 Apr;140:125-131. Epub 2016 Feb 15 doi: 10.1016/j.thromres.2016.02.014. PMID: 26971311
Intravascular hemolysis, vascular endothelial cell activation and thrombophilia in splenectomized patients with hemoglobin E/β-thalassemia disease.
Atichartakarn V, Chuncharunee S, Archararit N, Udomsubpayakul U, Aryurachai K
Acta Haematol 2014;132(1):100-7. Epub 2014 Feb 11 doi: 10.1159/000355719. PMID: 24525823
Prevalence and risk factors for pulmonary hypertension in patients with hemoglobin E/β-thalassemia disease.
Atichartakarn V, Chuncharunee S, Archararit N, Udomsubpayakul U, Lee R, Tunhasiriwet A, Aryurachai K
Eur J Haematol 2014 Apr;92(4):346-53. Epub 2014 Jan 10 doi: 10.1111/ejh.12242. PMID: 24330103
Prevention of severe thalassemia in northeast Thailand: 16 years of experience at a single university center.
Yamsri S, Sanchaisuriya K, Fucharoen G, Sae-Ung N, Ratanasiri T, Fucharoen S
Prenat Diagn 2010 Jun;30(6):540-6. doi: 10.1002/pd.2514. PMID: 20509153
Hemostatic and thrombotic markers in patients with hemoglobin E/beta-thalassemia disease.
Angchaisuksiri P, Atichartakarn V, Aryurachai K, Archararit N, Chuncharunee S, Tiraganjana A, Rattanasiri S
Am J Hematol 2007 Nov;82(11):1001-4. doi: 10.1002/ajh.20945. PMID: 17654509

Diagnosis

Intravascular hemolysis, vascular endothelial cell activation and thrombophilia in splenectomized patients with hemoglobin E/β-thalassemia disease.
Atichartakarn V, Chuncharunee S, Archararit N, Udomsubpayakul U, Aryurachai K
Acta Haematol 2014;132(1):100-7. Epub 2014 Feb 11 doi: 10.1159/000355719. PMID: 24525823
Prevalence and risk factors for pulmonary hypertension in patients with hemoglobin E/β-thalassemia disease.
Atichartakarn V, Chuncharunee S, Archararit N, Udomsubpayakul U, Lee R, Tunhasiriwet A, Aryurachai K
Eur J Haematol 2014 Apr;92(4):346-53. Epub 2014 Jan 10 doi: 10.1111/ejh.12242. PMID: 24330103
Prevention of severe thalassemia in northeast Thailand: 16 years of experience at a single university center.
Yamsri S, Sanchaisuriya K, Fucharoen G, Sae-Ung N, Ratanasiri T, Fucharoen S
Prenat Diagn 2010 Jun;30(6):540-6. doi: 10.1002/pd.2514. PMID: 20509153

Therapy

Modified desensitization protocols for a pediatric patient with anaphylactic reaction to deferoxamine.
Surapolchai P, Poachanukoon O, Satayasai W, Silapamongkonkul P
J Med Assoc Thai 2014 Aug;97 Suppl 8:S217-22. PMID: 25518318
Hydroxyurea and colonic ulcers: a case report.
Boonyawat K, Wongwaisayawan S, Nitiyanant P, Atichartakarn V
BMC Gastroenterol 2014 Jul 31;14:134. doi: 10.1186/1471-230X-14-134. PMID: 25082414Free PMC Article
Intravascular hemolysis, vascular endothelial cell activation and thrombophilia in splenectomized patients with hemoglobin E/β-thalassemia disease.
Atichartakarn V, Chuncharunee S, Archararit N, Udomsubpayakul U, Aryurachai K
Acta Haematol 2014;132(1):100-7. Epub 2014 Feb 11 doi: 10.1159/000355719. PMID: 24525823

Clinical prediction guides

Hypercoagulable state as demonstrated by thromboelastometry in hemoglobin E/beta-thalassemia patients: Association with clinical severity and splenectomy status.
Natesirinilkul R, Charoenkwan P, Nawarawong W, Boonsri S, Tantivate P, Wongjaikum S, Manowong S, Sanguansermsri T
Thromb Res 2016 Apr;140:125-131. Epub 2016 Feb 15 doi: 10.1016/j.thromres.2016.02.014. PMID: 26971311
Hemostatic and thrombotic markers in patients with hemoglobin E/beta-thalassemia disease.
Angchaisuksiri P, Atichartakarn V, Aryurachai K, Archararit N, Chuncharunee S, Tiraganjana A, Rattanasiri S
Am J Hematol 2007 Nov;82(11):1001-4. doi: 10.1002/ajh.20945. PMID: 17654509

Supplemental Content

Table of contents

    Genetic Testing Registry

    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 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

    Reviews

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