Hemoglobin S is primarily associated with which disease?

Hemoglobin S is primarily associated with sickle cell disease, which is a genetic disorder caused by a mutation in the gene that encodes the beta-globin chain of hemoglobin. This mutation leads to the production of hemoglobin S instead of normal hemoglobin A.

In sickle cell disease, the presence of hemoglobin S causes red blood cells to become rigid and sickle-shaped, particularly under low oxygen conditions. These sickled cells can obstruct blood flow in small vessels, leading to various complications such as pain crises, increased risk of infection, and organ damage. Thus, recognizing the association of hemoglobin S with sickle cell disease is crucial for diagnosis and management.

While thalassemia and chronic anemia can involve abnormal hemoglobin, they are not primarily characterized by hemoglobin S. Polycythemia, on the other hand, refers to an increase in red blood cell mass and is not directly related to hemoglobin S. Understanding the specific characteristics and implications of hemoglobin S is essential for laboratory diagnosis and clinical management of sickle cell disease.