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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