What is the globin gene family?
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.
How many genes does alpha globin have?
These two alpha-globin genes are located close together in a region of chromosome 16 known as the alpha-globin locus.
What are the chains of HBA2?
Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin.
What is HBA2 made of?
Hemoglobin A2 (HbA2) is a normal variant of hemoglobin A that consists of two alpha and two delta chains (α2δ2) and is found at low levels in normal human blood.
Is globin and globulin the same?
Globin and globulins are major proteins of an organism. Globulins are a major type of blood proteins found in serum. They are responsible for several functions of the blood. The key difference between globin and globulin is that globins are heme-containing globular proteins while globulins are simple globular proteins.
What is meant by globin?
: a colorless protein obtained by removal of heme from a conjugated protein and especially hemoglobin.
How is alpha thalassemia inherited?
The inheritance of alpha thalassemia is complex. Each person inherits two alpha-globin alleles from each parent. If both parents are missing at least one alpha-globin allele, their children are at risk of having Hb Bart syndrome, HbH disease, or alpha thalassemia trait.
What happens if both parents have alpha thalassemia trait?
If both parents have the gene defect, each of their children has a risk of having alpha thalassemia major. They are also at risk for having hemoglobin H disease, and of being a carrier.
What is HbA2 gene?
The HBA2 gene provides instructions for making a protein called alpha-globin. This protein is also produced from a nearly identical gene called HBA1. These two alpha-globin genes are located close together in a region of chromosome 16 known as the alpha-globin locus.
What does low HbA2 mean?
Low Hb A2 percentages were found in iron-deficiency anemia, hereditary persistance of fetal hemoglobin, and Hb H disease. In iron-deficiency anemia, the lowest levels of Hb A2 were observed in association with the most severe anemia.
What does it mean if HbA2 is high?
Other causes of elevated HbA2 other than thalassemia include antiretroviral therapy, vitamin B12/folate deficiency, and hyperthyroidism. Hemoglobin electrophoresis and high-performance liquid chromatography can also elucidate other hemoglobinopathies complicating a beta-thalassemia trait.
What is globin moiety of human Haemoglobin?
The globin moiety of hemoglobin is a protein and as such is rapidly digested in stomach or small intestine such that it is no longer detectable by immunochemical methods.
Is there a mutation in the Alpha2 globin gene?
Data indicate a mutation on the alpha2-globin gene, codon 83 (T>G), which was detected in two members of two unrelated families from Khuzestan Province, South Iran, that was named Hb Ahvaz.
What is hemoglobin alpha 2?
Hemoglobin, alpha 2 also known as HBA2 is a gene that in humans codes for the alpha globin chain of hemoglobin.
Where are the alpha globin genes located on chromosome 16?
These two alpha-globin genes are located close together in a region of chromosome 16 known as the alpha-globin locus. 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.
Where is the HbA2 gene located in the human chromosome?
Hemoglobin, alpha 2 also known as HBA2 is a gene that in humans codes for the alpha globin chain of hemoglobin. The human alpha globin gene cluster is located on chromosome 16 and spans about 30 kb, including seven alpha like globin genes and pseudogenes: 5′- HBZ – HBZP1 – HBM – HBAP1 – HBA2 – HBA1 – HBQ1 -3′.