Harrison's Practice: Sickle Cell Disease

Sickle Cell Disease

Definition

An inherited, structural hemoglobinopathy in which a mutation in the β-globin gene results in:
- Production of an abnormal hemoglobin (Hb), Hb S
- Under a variety of conditions, the abnormal Hb changes configuration, leading to:
  - Hb polymerization, producing intracellular fibers and a dense gel
  - Increased red blood cell (RBC) cell-to-cell adhesion and RBC adhesion to endothelial cells
  - Increased blood viscosity
  - Decreased RBC deformability
  - Altered RBC shape (sickling)
- Sickle-shaped RBCs that provoke:
  - Unpredictable episodes of microvascular vaso-occlusion
  - Premature RBC destruction (hemolytic anemia)
  - Episodes of tissue ischemia, acute pain, and gradual end-organ damage.
The prototype disease, sickle cell anemia, is the homozygous state for Hb S.

Sickle Cell Disease has been found in Harrison's Practice

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