| Entry |
|
|---|
| 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
|
|---|
| Gene |
|
|---|
| Drug |
|
|---|
| Other DBs |
|
|---|
| Reference |
|
|---|
| Authors |
Steinberg MH |
|---|
| Title |
Pathophysiologically based drug treatment of sickle cell disease. |
|---|
| Journal |
|
|---|
| 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 |
|
|---|
| LinkDB |
|
|---|
