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sickle cell anemia
Summary
- Synonym
-
- Hb SC disease
- Hb-S/Hb-C disease
- Hb-SS disease without crisis
- HbSS disease
- Hemoglobin S disease without crisis
- Sickle-cell/Hb-C disease without crisis
- drepanocytosis
- haemoglobin SC disease
- hemoglobin SC disease
- homozygous sickle cell disease
- sickle cell anaemia
- Definition
- A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.
- Super Class
- anemia autosomal recessive disease sickle cell disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 338 | APOB | apolipoprotein B | |
| 629 | CFB | complement factor B | |
| 718 | C3 | complement C3 | |
| 1557 | CYP2C19 | cytochrome P450 family 2 subfamily C member 19 | |
| 2876 | GPX1 | glutathione peroxidase 1 | |
| 3043 | HBB | hemoglobin subunit beta | |
| 3119 | HLA-DQB1 | major histocompatibility complex, class II, DQ beta 1 | |
| 4846 | NOS3 | nitric oxide synthase 3 | |
| 53335 | BCL11A | BCL11 transcription factor A |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P00751 | Complement factor B | |
| P01024 | Complement C3 | |
| P01920 | HLA class II histocompatibility antigen, DQ beta 1 chain | |
| P04114 | Apolipoprotein B-100 | |
| P29474 | Nitric oxide synthase 3 | |
| P68871 | Hemoglobin subunit beta | |
| Q9H165 | B-cell lymphoma/leukemia 11A |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P08032 | Spectrin alpha chain, erythrocytic 1 |
