Details of Disease | DrugMAP

General Information of Disease (ID: DISKV1JQ)

Disease Name	Sickle cell-hemoglobin E disease syndrome
Synonyms	HbSE disease
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%).
Disease Hierarchy	DIS6SVEE: Syndromic disease DISGK35P: Inherited hemoglobinopathy DISKV1JQ: Sickle cell-hemoglobin E disease syndrome
Disease Identifiers	MONDO ID MONDO_0016671 UMLS CUI C1112747 MedGen ID 1669602 Orphanet ID 251375 SNOMED CT ID 47024008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HBB	TTM6HK1	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HBB	OT514IKQ	Supportive	Autosomal recessive	[1]
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References

1	Sickle Cell Disease. 2003 Sep 15 [updated 2023 Dec 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.