Details of Disease

General Information of Disease (ID: DIS5OW63)

Disease Name Hemoglobin E disease
Synonyms hemoglobin E disease; Hb-E disease
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.
Disease Hierarchy
DISI8W45: Anaemia
DISGK35P: Inherited hemoglobinopathy
DIS5OW63: Hemoglobin E disease
Disease Identifiers
MONDO ID
MONDO_0016243
UMLS CUI
C0238159
MedGen ID
68658
Orphanet ID
2133
SNOMED CT ID
25065001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
HBB TTM6HK1 Supportive Autosomal recessive [1]
BCL11A TTR61MW moderate Genetic Variation [2]
HBB TTM6HK1 Strong CausalMutation [3]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HBB OT514IKQ Supportive Autosomal recessive [1]
HBD OTRQG4WA moderate Genetic Variation [2]
KLF1 OT1FK08U moderate Altered Expression [4]
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References

1 Hemoglobinopathies: clinical manifestations, diagnosis, and treatment. Dtsch Arztebl Int. 2011 Aug;108(31-32):532-40. doi: 10.3238/arztebl.2011.0532. Epub 2011 Aug 8.
2 A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.Hum Genet. 2010 Mar;127(3):303-14. doi: 10.1007/s00439-009-0770-2.
3 Clinical, Hematological and Molecular Analysis of Homozygous Hb E (HBB: c.79G?A) in the Indian Population.Hemoglobin. 2016;40(1):16-9. doi: 10.3109/03630269.2015.1086880. Epub 2015 Nov 11.
4 Krppel-like factor 1 mutations and expression of hemoglobins F and A2 in homozygous hemoglobin E syndrome.Ann Hematol. 2015 Jul;94(7):1093-8. doi: 10.1007/s00277-015-2335-x. Epub 2015 Feb 20.