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Reviewed August 2009
What is the official name of the HBA1 gene?
The official name of this gene is “hemoglobin, alpha 1.”
HBA1 is the gene's official symbol. The HBA1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the HBA1 gene?
The HBA1 gene provides instructions for making a protein called alpha-globin. This protein is also produced from a nearly identical gene called HBA2. 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. Hemoglobin is made up of four subunits: two subunits of alpha-globin and two subunits of another type of globin. 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. Heme molecules are necessary for red blood cells to pick up oxygen in the lungs and deliver it to the body's tissues. A complete hemoglobin protein is capable of carrying four oxygen molecules at a time (one attached to each heme molecule). Oxygen attached to hemoglobin gives blood its bright red color.
How are changes in the HBA1 gene related to health conditions?
Where is the HBA1 gene located?
Cytogenetic Location: 16p13.3
Molecular Location on chromosome 16: base pairs 226,678 to 227,519
The HBA1 gene is located on the short (p) arm of chromosome 16 at position 13.3.
More precisely, the HBA1 gene is located from base pair 226,678 to base pair 227,519 on chromosome 16.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about HBA1?
You and your healthcare professional may find the following resources about HBA1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the HBA1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding HBA1?
allele ; anemia ; cell ; chromosome ; contiguous ; contiguous gene deletion syndrome ; cryptorchidism ; cysts ; deletion ; gene ; gene deletion ; Hb ; heme ; hemoglobin ; hepatosplenomegaly ; hydrops fetalis ; hypospadias ; iron ; jaundice ; kidney ; locus ; microcephaly ; molecule ; oxygen ; polycystic kidney ; protein ; sclerosis ; substitution ; subunit ; syndrome ; testes ; thalassemia ; trait
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.