HBE1

Hemoglobin subunit epsilon (HBE1) is a protein that in humans is encoded by the HBE1 gene. The protein product is a component of hemoglobin, the molecule responsible for transporting oxygen in the blood. The HBE1 gene is part of the beta globin gene cluster, which also includes the genes HBB, HBD, HBBP1, and HBG1/2.

Function

The HBE1 gene provides instructions for making a protein called epsilon globin. Epsilon globin combines with alpha globin (produced from the HBA1 and HBA2 genes) to form hemoglobin in the developing fetus. Hemoglobin is the molecule in red blood cells that carries oxygen from the lungs to the body's tissues and returns carbon dioxide from the tissues back to the lungs.

Clinical significance

Mutations in the HBE1 gene can cause hemoglobin H disease (Hemoglobin H disease), a form of alpha thalassemia. This condition is characterized by a shortage of red blood cells (anemia), which can cause pale skin, weakness, fatigue, and more serious complications.

See also

• Hemoglobin
• Alpha thalassemia
• Beta globin

External links

• NCBI Gene
• Genetics Home Reference

This article incorporates text from the United States National Library of Medicine, which is in the public domain.