HBB rs34013622: Understanding Hemoglobin Coimbra
The rs34013622 variant is a rare genetic change located within the HBB gene, which provides instructions for making the beta-globin subunit of hemoglobin. This specific variant is associated with a condition known as Hemoglobin Coimbra, which can influence the structural integrity and oxygen-carrying capacity of red blood cells.
What each genotype means
Typical hemoglobin profile
This genotype represents the common reference sequence for this position in the HBB gene. It is not associated with the Hemoglobin Coimbra variant.
This is the most common genotype observed in the general population.
Hemoglobin Coimbra variant
This genotype is associated with Hemoglobin Coimbra, a condition characterized by a high-oxygen affinity hemoglobin variant. Individuals with this finding may have altered blood oxygen dynamics, and clinical significance should be discussed with a healthcare provider.
This genotype is considered rare in the general population.
Hemoglobin Coimbra variant
This genotype is associated with Hemoglobin Coimbra, a condition characterized by a high-oxygen affinity hemoglobin variant. Individuals with this finding may have altered blood oxygen dynamics, and clinical significance should be discussed with a healthcare provider.
This genotype is considered rare in the general population.
What is the rs34013622 Variant?
The rs34013622 variant is a specific change in the DNA sequence of the HBB gene, located on chromosome 11. In genetic terms, this variant represents a substitution where one nucleotide is replaced by another, potentially altering the resulting protein structure. Because it occurs within the HBB gene, it is categorized as a hemoglobin variant. Researchers track such variants to understand how minor changes in the genetic code can lead to variations in the physical properties of hemoglobin, the protein responsible for transporting oxygen throughout the body. This variant is identified by its unique rsID, which serves as a standardized label for researchers and clinicians to reference the exact location and nature of the genetic change within the human genome.
The Role of the HBB Gene
The HBB gene is essential for human health as it encodes the beta-globin protein. Beta-globin is a critical component of adult hemoglobin, the oxygen-carrying molecule found inside red blood cells. A functional hemoglobin molecule is typically a tetramer, consisting of two alpha-globin chains and two beta-globin chains. When the HBB gene functions normally, it ensures that hemoglobin can effectively bind to oxygen in the lungs and release it into tissues throughout the body. Mutations or variants in this gene can lead to a wide spectrum of conditions, ranging from mild structural changes in the hemoglobin molecule to more severe disorders like beta-thalassemia or sickle cell disease, where the production or function of hemoglobin is significantly impaired.
Research and Clinical Associations
Scientific literature associates the rs34013622 variant with Hemoglobin Coimbra. This condition is characterized by a structural alteration in the hemoglobin molecule, which may affect its stability or its ability to transport oxygen efficiently. While the evidence linking this specific variant to Hemoglobin Coimbra is documented in clinical databases, the overall clinical impact can vary significantly between individuals. Research into such variants is ongoing, and the strength of the association is considered moderate, meaning that while the link is established, the clinical manifestation may depend on other genetic and environmental factors. It is important to note that this information is for educational purposes and does not constitute a medical diagnosis. Individuals with concerns about their hemoglobin levels or genetic health should consult with a qualified healthcare provider or a genetic counselor.
Population Frequency
The rs34013622 variant is classified as a rare variant in the general population. Large-scale genomic databases, such as gnomAD, typically show that such specific HBB variants do not appear at high frequencies across major ancestral groups. Because it is rare, most individuals do not carry this variant. Its distribution is often limited to specific families or populations where the variant has been historically identified. The rarity of this variant means that there is limited data regarding its prevalence across diverse global populations, and it is not commonly screened for in standard genetic testing panels. As genomic research continues to expand, our understanding of the frequency and distribution of such rare variants may improve, providing better context for their clinical significance.
Navigating Genetic Information
Understanding your genetic information can be a complex process. If you have identified that you carry the rs34013622 variant, it is important to remember that genetic markers are only one piece of the puzzle regarding your health. This information should not be used to self-diagnose or make decisions about medical treatments. If you are concerned about potential health impacts, the most appropriate step is to discuss your findings with a physician or a clinical geneticist. They can provide context based on your personal and family medical history, order appropriate clinical testing if necessary, and help you understand what this means for your health. Always rely on professional medical advice rather than interpreting genetic data in isolation, as clinical outcomes are influenced by a complex interplay of genetics, lifestyle, and environment.
How common is this variant?
The rs34013622 variant is considered rare across all major global populations, with very low allele frequencies observed in large-scale genomic databases.
Frequently asked questions
What is Hemoglobin Coimbra?
Hemoglobin Coimbra is a rare variant of the hemoglobin molecule caused by a specific mutation in the HBB gene. It can affect the stability and function of hemoglobin, potentially impacting how oxygen is transported in the blood.
Is rs34013622 the same as sickle cell disease?
No, rs34013622 is a distinct variant associated with Hemoglobin Coimbra. While both involve the HBB gene, they are different genetic changes with different clinical implications.
Should I be worried if I have this variant?
Finding a rare variant does not necessarily mean you have a health problem. You should discuss your results with a healthcare professional who can interpret the findings in the context of your overall health.
How can I get tested for HBB variants?
Clinical genetic testing for HBB variants is typically ordered by a doctor if there is a clinical suspicion of a hemoglobinopathy. You should consult with a primary care physician or a hematologist to discuss if testing is appropriate for you.
Sources & further reading
Educational information only, last refreshed 9/16/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This variant (p.Glu27Lys, also known as Hb E) is a pathogenic mutation that, when compound heterozygous with beta-thalassemia, leads to a spectrum of clinical phenotypes.
This variant is a pathogenic mutation in the HBB gene associated with beta-thalassemia.
This variant is a pathogenic mutation in the HBB gene associated with hemoglobinopathies such as sickle cell disease.
This variant (c.20A>T, p.Glu7Val) causes the substitution of valine for glutamic acid in the beta-globin chain, leading to sickle cell trait or disease depending on zygosity.
Pathogenic variant (p.Glu6Val, HbS-Antilles) in HBB associated with sickle cell disease-like pathology.
Pathogenic nonsense mutation (c.118C>T / p.Gln40Ter / codon 39 nonsense) causing beta-zero thalassemia and classic carrier status (beta-thalassemia minor).