Quick Orientation
Section
Definition
- Objective
- Understand the core idea
- Keywords
- Abnormal hemoglobins, mutations, 400
Basic Concepts of Globin Synthesis
- Objective
- Understand the core idea
- Keywords
- two gene clusters, four other genes, ε-gene
Clinical Correlation
- Objective
- Connect the mechanism to clinical findings
- Keywords
- Hemoglobinopathies, Sickle-cell anemia (HbS), hemoglobin C disease (HbC)
Definition
Abnormal hemoglobins result from mutations in the genes coding for α or β globin chains; about 400 mutant hemoglobins are known.
- About 95% of these mutations involve alteration of a single amino acid in the globin chain.