HbC medically refers to Hemoglobin C (HbC), a variant of hemoglobin resulting from a specific genetic mutation.
Understanding Hemoglobin C (HbC)
Hemoglobin C (HbC) arises due to a missense mutation within the HBB gene's coding region. This mutation causes a substitution: glutamic acid is replaced by lysine at the sixth position of the β globin chain (p. Glu6Lys).
- Genetic Basis: A mutation in the HBB gene.
- Amino Acid Change: Glutamic acid replaced by lysine at position 6 of the β globin chain.
- Solubility: HbC is less soluble compared to normal hemoglobin (HbA).
| Feature | Description |
|---|---|
| Name | Hemoglobin C (HbC) |
| Cause | Missense mutation in the HBB gene |
| Mutation | Glutamic acid to lysine substitution (p. Glu6Lys) |
| Location | Sixth position of the β globin chain |
| Solubility | Lower solubility than HbA (normal hemoglobin) |
