Hemoglobin, Alpha 2 (HBA2) is a gene that encodes the alpha globin chain of hemoglobin in humans. Hemoglobin is a crucial protein in red blood cells responsible for transporting oxygen from the lungs to various tissues and organs throughout the body. The alpha globin chains, along with beta globin chains, form the most common type of hemoglobin in adults, known as Hemoglobin A (HbA). Hemoglobin A2 (HbA2) is a minor component of adult hemoglobin, consisting of two alpha and two delta chains, and constitutes about 2-3% of the total hemoglobin in adults .
The human alpha globin gene cluster is located on chromosome 16 and spans approximately 30 kilobases (kb). This cluster includes seven alpha-like globin genes and pseudogenes arranged in the following order: 5’- HBZ - HBZP1 - HBM - HBAP1 - HBA2 - HBA1 - HBQ1 -3’ . The HBA2 and HBA1 genes encode the alpha globin chains, which are identical in their coding sequences but differ slightly in their 5’ untranslated regions and introns. These genes play a vital role in the synthesis of hemoglobin, which is essential for oxygen transport in the body .
Recombinant Hemoglobin, Alpha 2 (Human Recombinant) is produced using recombinant DNA technology, which involves inserting the HBA2 gene into a suitable expression system, such as Escherichia coli (E. coli), to produce the protein in large quantities. This recombinant protein is often tagged with a His-tag at the N-terminus to facilitate purification and detection . The recombinant HBA2 protein is used in various research applications, including studies on hemoglobin function, structure, and interactions with other molecules.
Mutations or deletions in the HBA2 gene can lead to alpha-thalassemia, a genetic disorder characterized by reduced or absent production of alpha globin chains. Alpha-thalassemia can result in various clinical manifestations, ranging from mild anemia to severe forms such as Hemoglobin H disease and hydrops fetalis . Understanding the structure and function of HBA2 is crucial for developing diagnostic and therapeutic approaches for these conditions.