KEGG   DISEASE: Sickle cell anemiaHelp
Entry
H00229                      Disease                                

Name
Sickle cell anemia
Description
Sickle cell anaemia (SCA) is a recessive genetic disease caused by a single-point mutation in the beta globin gene in codon 6 (Glu6Val) that specifies one of the chains of haemoglobin. The disease is characterized by a chronic haemolytic anaemia with the sickle cells which show abnormal morphology due to the damage of the membrane skeletons and agglutinate under deoxygenated conditions.
Category
Hematologic disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H00229  Sickle cell anemia
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   3A51  Sickle cell disorders or other haemoglobinopathies
    H00229  Sickle cell anemia
BRITE hierarchy
Gene
HBB [HSA:3043] [KO:K13823]
Drug
Glutamine [DR:D00015]
Crizanlizumab [DR:D11480]
Hydroxyurea [DR:D00341]
Voxelotor [DR:D11330]
Other DBs
ICD-11: 3A51
ICD-10: D57
OMIM: 603903
Reference
  Authors
Steinberg MH
  Title
Pathophysiologically based drug treatment of sickle cell disease.
  Journal
Trends Pharmacol Sci 27:204-10 (2006)
DOI:10.1016/j.tips.2006.02.007
Reference
  Authors
De Franceschi L, Corrocher R
  Title
Established and experimental treatments for sickle cell disease.
  Journal
Haematologica 89:348-56 (2004)
Reference
  Authors
Bunn HF
  Title
Induction of fetal hemoglobin in sickle cell disease.
  Journal
Blood 93:1787-9 (1999)
Reference
PMID:9287233
  Authors
Bunn HF
  Title
Pathogenesis and treatment of sickle cell disease.
  Journal
N Engl J Med 337:762-9 (1997)
DOI:10.1056/NEJM199709113371107
LinkDB All DBs

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