Hemoglobinopathies: Clinical Summary
These are genetic disorders resulting from structural abnormalities in the globin chains or reduced synthesis of those chains.
| Condition | Pathophysiology | Key Findings |
|---|---|---|
| Sickle Cell Disease (HbS) | Point mutation: Glutamic acid to Valine at position 6 of Beta-globin. | Vaso-occlusive crises, autosplenectomy, and Howell-Jolly bodies. |
| HbC Disease | Point mutation: Glutamic acid to Lysine at position 6 of Beta-globin. | Mild hemolytic anemia, HbC crystals in erythrocytes. |
| Thalassemias | Reduced/absent production of Alpha or Beta-globin chains. | Microcytic anemia, target cells, hepatosplenomegaly. |
High-Yield Core Realities:
- Sickling: HbS polymerizes under hypoxic, acidic, or dehydrated conditions. Hydroxyurea increases HbF levels to prevent this.
- Thalassemia Beta Major: Severe microcytic anemia requiring chronic transfusions, often leading to secondary iron overload.
- Laboratory Profile: Electrophoresis is diagnostic for identifying the types and relative percentages of hemoglobins present.