KEGG DISEASE: Sickle cell disease

KEGG

DISEASE: Sickle cell disease

Entry

H00229                      Disease

Name

Sickle cell disease;
Sickle cell anemia

Description

Sickle cell disease, also known as Sickle cell anaemia, 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 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 disease

Gene

HBB [HSA:3043] [KO:K13823]

Drug

Glutamine [DR:D00015]
Crizanlizumab [DR:D11480]
Voxelotor [DR:D11330]
Exagamglogene autotemcel [DR:D12749]
Hydroxyurea [DR:D00341]
Lovotibeglogene autotemcel [DR:D12765]

Other DBs

ICD-11:

ICD-10:

OMIM:

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

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

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