What is the function of the beta globin protein?
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 does beta globin mean?
Beta-globin is a component (subunit) of a larger protein called hemoglobin, which is located inside red blood cells. In adults, hemoglobin normally consists of four protein subunits: two subunits of beta-globin and two subunits of a protein called alpha-globin, which is produced from another gene called HBA.
How is beta globin produced?
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.
What kind of mutation is sickle cell anemia?
Sickle cell disease is caused by a mutation in the hemoglobin-Beta gene found on chromosome 11. Hemoglobin transports oxygen from the lungs to other parts of the body. Red blood cells with normal hemoglobin (hemoglobin-A) are smooth and round and glide through blood vessels.
How is sickle cell anemia diagnosed?
A blood test can check for the form of hemoglobin that underlies sickle cell anemia. In the United States, this blood test is part of routine newborn screening. But older children and adults can be tested, too. In adults, a blood sample is drawn from a vein in the arm.
What does your hemoglobin level tell you?
Hemoglobin is a protein in your red blood cells that carries oxygen to your body’s organs and tissues and transports carbon dioxide from your organs and tissues back to your lungs. If a hemoglobin test reveals that your hemoglobin level is lower than normal, it means you have a low red blood cell count (anemia).
What mutation causes thalassemia?
Thalassemia is an inherited autosomal recessive disease resulting from mutations in the α- and β-globin gene clusters on chromosome 16 and chromosome 11, respectively. It is characterized by the absence or reduced synthesis of globin chains of hemoglobin and includes two main types, α- and β- thalassemia (1, 2).
What are the symptoms of low haemoglobin?
Signs and symptoms can include:
- Fatigue.
- Weakness.
- Pale skin and gums.
- Shortness of breath.
- A fast or irregular heartbeat.
What happens if hemoglobin is low?
Anemia is a condition in which you lack enough healthy red blood cells to carry adequate oxygen to your body’s tissues. Having anemia, also referred to as low hemoglobin, can make you feel tired and weak. There are many forms of anemia, each with its own cause.
What is beta globin used for in qPCR?
Beta globin or other house keeping genes, such as RNase H, encode proteins that are involved in the basic function of cells, therefore they are used as indication of the quality of swabs collected. That is, if enough cells (quantitative detection of the gene, hence the use of qPCR) were collected.
What is beta-globin complete™?
Beta-Globin Complete™ – 1) To identify disease-causing mutations in individuals affected with beta-thalassemia. 2) To identify carriers in high-risk ethnic group or people with positive family history. 3) Prenatal diagnosis of beta-thalassemia.
How many regions are there in the beta-globin gene?
In this study, the beta-globin gene was divided into 12 overlapping segments covering all regions of the gene from exons and introns (Table 2, Fig. 3, Fig. 4, Fig. 5, Fig. 6, Fig. 7, Fig. 8, Fig. 9, Fig. 10, Fig. 11, Fig. 12, Fig. 1).