What does the beta-globin gene do?
The beta globin protein is one of the subunits of hemoglobin, a protein necessary for the oxygen-carrying function of red blood cells. People with the sickle cell mutation in both copies of the HBB gene produce proteins that clump together and lead to changes in the shape and behavior of red blood cells.
What is the beta-globin gene family?
The beta-globin gene family located on chromosome 11 is shown in the figure below and consists of five functional genes (blue boxes) and two pseudogenes (diagonal lines).
What is the beta-globin gene locus?
The human β-globin locus is composed of five genes located on a short region of chromosome 11, responsible for the creation of the beta parts (roughly half) of the oxygen transport protein Haemoglobin. This locus contains not only the beta globin gene but also delta, gamma-A, gamma-G, and epsilon globin.
What is Gene Therapy simple definition?
Overview. Gene therapy involves altering the genes inside your body’s cells in an effort to treat or stop disease. Genes contain your DNA — the code that controls much of your body’s form and function, from making you grow taller to regulating your body systems. Genes that don’t work properly can cause disease.
What is alpha-globin gene?
Alpha-globin is a component of both fetal hemoglobin, which is active only before birth and in the newborn period, and adult hemoglobin, which is active throughout the rest of life. Each of the four protein subunits of hemoglobin carries an iron-containing molecule called heme.
What chromosome is beta globin?
The beta globin (HBB) gene maps in the short arm of chromosome 11, in a region containing also the delta globin gene, the embryonic epsilon gene, the fetal A-gamma and G-gamma genes, and a pseudogene (ψB1).
What are paralogous genes?
Paralogous genes (or paralogs) are a particular class of homologous genes. They are the result of gene duplication and the gene copies resulting from the duplication are called paralogous of each other.
How long is beta globin gene?
Hemoglobin subunit beta, (beta globin, β-globin, haemoglobin beta, hemoglobin beta) is a globin protein, coded for by the HBB gene, which along with alpha globin (HBA), makes up the most common form of haemoglobin in adult humans, hemoglobin A (HbA). It is 147 amino acids long and has a molecular weight of 15,867 Da.
What is sickle cell anemia simple definition?
Listen to pronunciation. (SIH-kul sel uh-NEE-mee-uh) An inherited disease in which the red blood cells have an abnormal crescent shape, block small blood vessels, and do not last as long as normal red blood cells.
What happens beta thalassemia?
Beta thalassemia major causes major problems and can result in early death. Complications may include delayed growth, bone problems causing facial changes, liver and gall bladder problems, enlarged spleen, enlarged kidneys, diabetes, hypothyroidism, and heart problems.