Details of Disease

General Information of Disease (ID: DISX4EOQ)

• Disease Name: Sickle cell-hemoglobin c disease syndrome
• Synonyms: sickle cell - hemoglobin C disease; sickle cell - haemoglobin C disease; HbSC disease
• Definition: A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DIS5YNZB: Sickle-cell anaemia
  DISX4EOQ: Sickle cell-hemoglobin c disease syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0016669
  MESH ID: D006450
  UMLS CUI: C0019034
  MedGen ID: 5496
  Orphanet ID: 251365
  SNOMED CT ID: 35434009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HBB	TTM6HK1	Supportive	Autosomal recessive	[1]
HBB	TTM6HK1	Strong	Genetic Variation	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SPTA1	OT1YMP65	Limited	Biomarker	[3]
HBB	OT514IKQ	Supportive	Autosomal recessive	[1]

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.
• [2] Beta-globin gene haplotype in Hb SC disease.Am J Hematol. 1996 Jul;52(3):189-91. doi: 10.1002/(SICI)1096-8652(199607)52:3<189::AID-AJH9>3.0.CO;2-P.
• [3] Increased cation permeability in mutant mouse red blood cells with defective membrane skeletons.Blood. 1995 Dec 1;86(11):4307-14.