Details of Disease | DrugMAP

General Information of Disease (ID: DIS47FK6)

Disease Name	Sickle cell-hemoglobin d disease syndrome
Synonyms	sickle cell - haemoglobin D disease; sickle cell - hemoglobin D disease; HbSD disease
Definition	A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISGK35P: Inherited hemoglobinopathy DIS47FK6: Sickle cell-hemoglobin d disease syndrome
Disease Identifiers	MONDO ID MONDO_0016670 UMLS CUI C0272084 MedGen ID 452366 Orphanet ID 251370 SNOMED CT ID 25472008

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.