Hemoglobin S

Hemoglobin S is a form of hemoglobin associated with sickle cell disease, a genetic disorder that affects the red blood cells. Hemoglobin S is produced by a specific type of gene mutation in the hemoglobin gene.

Overview

Hemoglobin S is a variant of normal hemoglobin, which is the protein in red blood cells that carries oxygen to the body's tissues. This variant is caused by a single nucleotide mutation in the beta-globin gene, which results in the substitution of the amino acid valine for glutamic acid in the sixth position of the beta chain of the hemoglobin molecule.

Sickle Cell Disease

The presence of Hemoglobin S can lead to sickle cell disease, a condition where red blood cells become sickle-shaped, rigid, and sticky. These sickle cells can block blood flow in the small vessels of the limbs and organs, leading to pain and organ damage.

Diagnosis

Diagnosis of Hemoglobin S and sickle cell disease is typically done through a blood test. This test can identify the presence of Hemoglobin S and determine if a person has sickle cell disease or is a carrier of the sickle cell trait.

Treatment

Treatment for sickle cell disease can include medication to reduce pain and prevent complications, blood transfusions, and in some cases, a bone marrow transplant.

See Also

• Sickle cell disease
• Hemoglobin
• Red blood cells
• Beta-globin

Hemoglobin S Resources
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