What is a beta chain of hemoglobin?

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.

Where is hemoglobin beta gene located?

In human, the HBB gene is located on chromosome 11 at position p15.

What is the normal function of hemoglobin beta?

HBB → Hemoglobin subunit beta Spinorphin Functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and as a selective antagonist of the P2RX3 receptor which is involved in pain signaling, these properties implicate it as a regulator of pain and inflammation.

What type of mutation is beta thalassemia?

Beta thalassemia major is caused by a homozygous mutation (beta-zero thalassemia) of the beta-globin gene, resulting in the total absence of beta chains. It manifests clinically as jaundice, growth retardation, hepatosplenomegaly, endocrine abnormalities, and severe anemia requiring life-long blood transfusions.

Is beta thalassemia nonsense mutation?

At the position corresponding to amino acid 17, replacement of an adenine by a uracil changes the triplet AAG, which codes for lysine in the normal beta chain, to an amber termination codon, UAG. This type of beta 0 thalassemia represents an example of a nonsense mutation in man.

Where is beta thalassemia most common?

Thousands of infants with beta thalassemia are born each year. Beta thalassemia occurs most frequently in people from Mediterranean countries, North Africa, the Middle East, India, Central Asia, and Southeast Asia.

What causes beta thalassemia?

Beta thalassemia is caused by mutations in the hemoglobin beta (HBB) gene. Individuals with beta thalassemia minor have a mutation in one HBB gene, while individuals with the intermediate and major forms have mutations in both HBB genes.

How is beta thalassemia defined?

Beta thalassemia is a blood disorder that reduces the production of hemoglobin . Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body. In people with beta thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body.

What is the normal hemoglobin level?

Normal results for adults vary, but in general are: Male: 13.8 to 17.2 grams per deciliter (g/dL) or 138 to 172 grams per liter (g/L) Female: 12.1 to 15.1 g/dL or 121 to 151 g/L.

Is alpha or beta thalassemia worse?

Alpha thalassemia major with hemoglobin Bart’s usually results in fatal hydrops fetalis. Beta thalassemia major causes hemolytic anemia, poor growth, and skeletal abnormalities during infancy. Affected children will require regular lifelong blood transfusions.

Is beta thalassemia serious?

Beta thalassemia major (also called Cooley’s anemia). People with beta thalassemia major have severe symptoms and life-threatening anemia. They need regular blood transfusions and other medical treatment.

How is beta thalassemia treated?

Treatment may include:

1. Regular blood transfusions.
2. Medicines to reduce extra iron from your body (called iron chelation therapy)
3. Surgery to remove the spleen, if needed.
4. Daily folic acid.
5. Surgery to remove the gallbladder.
6. Regular checks of heart and liver function.
7. Genetic tests.
8. Bone marrow transplant.

What does hemoglobin subunit beta mean?

Hemoglobin subunit beta, (beta globin, β-globin, haemoglobin beta, hemoglobin beta) is a globinprotein, coded for by the HBBgene, which along with alpha globin (HBA), makes up the most common form of haemoglobinin adult humans, hemoglobin A(HbA).[4]

What causes high HGB level?

Hgb levels are measured as part of the complete blood count (CBC), which is drawn during routine bloodwork and during evaluation of illness. High Hgb is caused by increased RBCs or by decreased blood volume.

What is the hemoglobin beta chain?

Medical Definition of beta globin. : the chain of hemoglobin that is designated beta and that when deficient or defective causes various anemias (as beta-thalassemia or sickle cell anemia) — compare alpha globin .

What does high HGB count mean?

High Hgb is known as polycythemia. This means you have too many red blood cells. Polycythemia vera is a cancer of the blood in which your bone marrow overproduces red blood cells. With polycythemia, a blood test also shows that you have a high red blood cell count and high hematocrit.