Definition
- Hemoglobin C disease: occurs in individuals who are homozygous for the hemoglobin C mutation (HbCC)
- Hemoglobin C trait: occurs in individuals who are heterozygous carriers of the hemoglobin C mutation (HbAC)
Etiology
Pathophysiology
Glutamic acid can also be replaced with a lysine, creating hemoglobin C.
- HbC precipitates as crystals → ↑ RBC rigidity and ↓ deformability → extravascular hemolysis
- β-globin mutation (glutamate replaced by lysine)
- HbC is less soluble than HbA and tends to form hexagonal crystals, which lead to RBC dehydration (↑ MCHC).
- RBCs have reduced oxygen-binding capacity and a shorter lifespan.
Clinical features
Hemolytic anemia (usually mild)
Diagnostics
Treatment
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