What does the alpha-globin gene do?
What does the alpha-globin gene do?
Alpha-globin is a component (subunit) of a larger protein called hemoglobin, which is the protein in red blood cells that carries oxygen to cells and tissues throughout the body.
Why is alpha-globin important?
Within cells, the erythroid-specific molecular chaperone α hemoglobin stabilizing protein specifically binds to multiple forms of α-globin (apo, ferrous, and ferric) and stabilizes free α-chains by promoting protein folding and resistance to protease digestion.
What is alpha-globin common mutation analysis?
Alpha-Globin Common Mutation Analysis – Alpha Thalassemia is a common hereditary trait and disease among individuals of Asian heritage. Disease ranges in severity from mild abnormalities of erythrocytic indices to severe anemia. Genetic counseling may be advised for some patients.
What is the function of globin in hemoglobin?
The globins are a superfamily of heme-containing globular proteins, involved in binding and/or transporting oxygen. These proteins all incorporate the globin fold, a series of eight alpha helical segments. Two prominent members include myoglobin and hemoglobin.
What does the HbS gene do?
Sickle hemoglobin (HbS) is caused by a mutation in the β globin gene which affects the stability and solubility of the β chain. When HbS is deoxygenated (e.g. during inflammation, infection, dehydration or hypoxia) it polymerizes and distorts the red cell, eventually resulting in the characteristic sickle shape.
What is the alpha-globin gene family?
In humans, the α-globin gene family resides on chromosome 16p13. 3 and is composed of a cluster of 3 genes (ζ2-α2-α1) with protein products that bind heme and assemble into hemoglobin.
Is Alpha thalassemia a gene mutation?
Alpha thalassemia is caused by alterations (mutations) in two adjacent genes, the HBA1 and the HBA2 genes. Every person has two copies of the HBA1 gene (one from each parent) and two copies of the HBA2 gene (also one from each parent).
How many globin genes are there?
Since each cell has two chromosomes 16, a total of four alpha globin genes exist in each cell. Each of the four genes produces about one-quarter of the alpha globin chains needed for hemoglobin synthesis.
How does HbS cause sickling?
Desaturation of HbS results in the polymeriz- ation of haemoglobin, forming large aggregates called tactoids, which deform the red cells into the typical sickle shape.
What does HbSS stand for in sickle cell?
HbSS, or sickle cell anemia, is the most common subtype of sickle cell disease. In this subtype, the affected person inherits one sickle-cell gene from each parent. This is called a homozygous sickle cell disease.[^10]