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Sickle cell-hemoglobin E disease syndrome

MedGen UID:
1669602
•Concept ID:
C1112747
•
Disease or Syndrome
Synonyms: Double heterozygous for Hb S + Hb E; HbS-HbE disease; HbSE disease; Hemoglobin S-E disease; Hemoglobin S/E disease; Hemoglobin SE Disease; Sickle cell anemia with hemoglobin E disease; Sickle cell-hemoglobin E disease; Sickle Cell-Hemoglobin E Disease; sickle cell-hemoglobin E disease syndrome
SNOMED CT: Hemoglobin S/E disease (47024008); Sickle cell anemia with hemoglobin E disease (47024008); Double heterozygous for Hb S + Hb E (47024008); Sickle cell-hemoglobin E disease (47024008); Hemoglobin S-E disease (47024008); HbS-HbE disease (47024008)
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:0016671
Orphanet: ORPHA251375

Definition

A rare, genetic hemoglobinopathy usually characterized by mild microcytic hemolysis and, very rarely, vaso-occlusive complications. Severe manifestations have been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis. The genotype is characterized by an HbS allele in combination with an HbE variant (beta26glu>lys); symptoms are due to the low allelic expression of HbE leading to HbS predominance (65+/-5%). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSickle cell-hemoglobin E disease syndrome

Recent clinical studies

Etiology

Most adults with severe HbSC disease are not treated with hydroxyurea.
Ghunney WK, Asare EV, Ayete-Nyampong JB, Oppong SA, Rodeghier M, DeBaun MR, Olayemi E
Blood Adv 2023 Jul 11;7(13):3312-3319. doi: 10.1182/bloodadvances.2022009049. PMID: 36799926Free PMC Article
Rheology of red blood cells in patients with HbC disease.
Lemonne N, Billaud M, Waltz X, Romana M, Hierso R, Etienne-Julan M, Connes P
Clin Hemorheol Microcirc 2016;61(4):571-7. doi: 10.3233/CH-141906. PMID: 25335812
Sickle cell-haemoglobin E (HbSE) compound heterozygosity: a clinical and haematological study.
Knox-Macaulay HH, Ahmed MM, Gravell D, Al-Kindi S, Ganesh A
Int J Lab Hematol 2007 Aug;29(4):292-301. doi: 10.1111/j.1365-2257.2006.00886.x. PMID: 17617080

Therapy

Most adults with severe HbSC disease are not treated with hydroxyurea.
Ghunney WK, Asare EV, Ayete-Nyampong JB, Oppong SA, Rodeghier M, DeBaun MR, Olayemi E
Blood Adv 2023 Jul 11;7(13):3312-3319. doi: 10.1182/bloodadvances.2022009049. PMID: 36799926Free PMC Article
Mortality among children with sickle cell disease identified by newborn screening during 1990-1994--California, Illinois, and New York.
Centers for Disease Control and Prevention (CDC)
MMWR Morb Mortal Wkly Rep 1998 Mar 13;47(9):169-72. PMID: 9518280

Clinical prediction guides

Rheology of red blood cells in patients with HbC disease.
Lemonne N, Billaud M, Waltz X, Romana M, Hierso R, Etienne-Julan M, Connes P
Clin Hemorheol Microcirc 2016;61(4):571-7. doi: 10.3233/CH-141906. PMID: 25335812

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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    Curated

    • ACMG Algorithm, 2023
      American College of Medical Genetics Algorithm, FE, FEA: Hemoglobin E Screening Results, 2023

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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