HBB gene

The HBB gene, also known as the beta-globin gene, is generally found in the human body and is responsible for producing hemoglobin, a protein that carries oxygen to various tissues and cells. Changes in this gene can lead to various conditions and diseases, such as sickle cell anemia.

Sickle cell anemia is a genetic disorder that causes red blood cells to have a sickle shape, rather than the normal round shape. The HBB gene is listed in various genetic databases, such as OMIM, and additional information about the gene and its associated conditions can be found in scientific articles and resources.

Testing for genetic variations in the HBB gene can help diagnose certain conditions, such as sickle cell anemia or beta-thalassemia. Different variants of the gene can affect the production of hemoglobin and the structure of red blood cells. This can lead to various symptoms and complications, including chronic pain and organ damage.

In cases where individuals have changes or mutations in the HBB gene, genetic counseling and support from healthcare professionals is often recommended. The HBB gene is just one example of the many genes and variations that play a role in human health. Understanding the functions and effects of these genes is essential for the diagnosis and management of various diseases and conditions.

For additional information about the HBB gene and related disorders, the Genetic Diversity and Disease Registry (GDDR) and PubMed are valuable resources. These databases provide up-to-date information on the gene’s function, associated diseases, and references to scientific articles.

Health Conditions Related to Genetic Changes

Genetic changes in the HBB gene can cause various health conditions. These changes are mainly caused by mutations in the HBB gene, which is responsible for producing beta-globin. In some cases, genetic changes may affect the production or structure of beta-globin, leading to health conditions.

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Some of the health conditions related to genetic changes in the HBB gene include:

• Sickle Cell Disease: This condition is caused by a genetic change that replaces a single amino acid in the beta-globin protein. It leads to the production of abnormal hemoglobin, resulting in the formation of sickle-shaped red blood cells. People with sickle cell disease may experience mild to severe symptoms, including pain, organ damage, and an increased risk of infections.
• Beta-thalassemia: This condition is caused by genetic changes that result in a reduced production of beta-globin. It leads to a shortage of normal hemoglobin and can cause anemia, fatigue, and other related symptoms. Beta-thalassemia can range from mild to severe, depending on the specific genetic changes and their impact on beta-globin production.
• Hemoglobin E disease: This condition is caused by genetic changes that lead to the production of an abnormal variant of beta-globin called hemoglobin E. Hemoglobin E disease can cause mild to moderate hemolytic anemia, which is the destruction of red blood cells. Some people with this condition may also experience enlargement of the spleen and other related health issues.
• Methemoglobinemia: Certain genetic changes in the HBB gene can lead to the production of abnormal hemoglobin that is unable to carry oxygen effectively. This condition, known as methemoglobinemia, can affect the color of the blood and cause symptoms such as shortness of breath and fatigue.

To diagnose these health conditions and determine the specific genetic changes, genetic testing can be performed. These tests analyze the HBB gene and provide information about any variants or mutations present. Testing can be done on blood or other tissues, and it is essential for understanding the underlying cause of these conditions and guiding appropriate treatment.

In cases where genetic changes are identified, individuals and their healthcare providers can refer to resources such as the central registry of beta-globin gene variants. This registry lists specific genetic changes and provides additional information on the associated health conditions. Scientific articles and information available on PubMed can also provide further insights into these conditions and their management.

Overall, genetic changes in the HBB gene can have significant implications for an individual’s health. Understanding the specific variations and how they affect beta-globin production is crucial for diagnosing and managing these related health conditions.

Beta thalassemia

Beta thalassemia is a genetic condition caused by mutations in the HBB gene, which is responsible for the production of beta-globin, a component of hemoglobin.

This disease generally affects red blood cells, causing a shortage of beta-globin and resulting in abnormal production of hemoglobin. Consequently, the red blood cells become fragile and may assume a sickle shape, similar to those seen in sickle cell disease.

There are different types of beta thalassemia, such as beta-thalassemia major, beta-thalassemia intermedia, and beta-thalassemia minor. Beta-thalassemia major is the most severe form and requires regular blood transfusions and lifelong medical management.

Resources like PubMed and databases like OMIM provide scientific articles and additional information on beta thalassemia and other related conditions. These resources can be utilized to gather information on the genetic variations, testing methods, clinical changes, and their effects on the body. The registry of genetic conditions and the Health Information Registry also offer valuable information regarding beta thalassemia and its associated health issues.

Beta thalassemia can cause a range of symptoms, including anemia, fatigue, bone deformities, and organ damage. In some cases, individuals with beta thalassemia may develop other blood disorders, such as methemoglobinemia. The severity of the disease varies, with some individuals experiencing milder symptoms and being classified as having beta-thalassemia minor or beta-thalassemia intermedia.

Treatment for beta thalassemia aims to alleviate symptoms, reduce the body’s iron levels, and manage associated complications. This may involve regular blood transfusions, iron-chelation therapy, and bone marrow transplantation in severe cases.

Researchers are constantly studying beta thalassemia and its variants, and publications in scientific journals are continuously being published. These articles contribute to the understanding of the disease, treatment options, and potential future advancements in the field.

In summary, beta thalassemia is a genetic disorder caused by mutations in the HBB gene, resulting in abnormal production of beta-globin and hemoglobin. It can manifest as various types of thalassemia, with beta-thalassemia major being the most severe. Resources like PubMed and databases like OMIM provide abundant scientific information and resources that can assist in understanding and managing this condition.

Methemoglobinemia beta-globin type

Methemoglobinemia beta-globin type is a genetic disorder caused by variations in the HBB gene. It is a condition that affects the oxygen-carrying protein in red blood cells called hemoglobin.

Methemoglobinemia is generally a mild condition and may not cause any health problems in affected individuals. However, in some cases, it can cause symptoms such as blue-colored skin, shortness of breath, fatigue, and other symptoms associated with reduced oxygen delivery to tissues.

The HBB gene, also known as the beta-globin gene, is responsible for producing the beta-globin protein, which is a subunit of hemoglobin. Variations in this gene can affect the structure or function of the hemoglobin protein, leading to the formation of abnormal hemoglobin molecules.

There are different types of methemoglobinemia caused by variations in the HBB gene, listed in databases such as OMIM and PubMed. These variations can affect the ability of the hemoglobin protein to bind and release oxygen, leading to the formation of methemoglobin instead. This abnormal hemoglobin is unable to carry oxygen efficiently, resulting in reduced oxygen delivery to tissues and the characteristic blue skin color.

Testing for methemoglobinemia beta-globin type can be done through various laboratory tests, such as measuring the level of methemoglobin in the blood or analyzing the genetic variants in the HBB gene. These tests can provide valuable information for diagnosis and management of the condition.

Additional resources, such as scientific articles and databases, are available to learn more about the HBB gene and its variations. These resources can provide information on the different types of methemoglobinemia beta-globin type, their clinical features, and other related conditions such as sickle cell disease and thalassemia.

In conclusion, methemoglobinemia beta-globin type is a genetic disorder caused by variations in the HBB gene. It is a condition that affects the oxygen-carrying capacity of hemoglobin and can cause symptoms such as blue-colored skin and reduced oxygen delivery to tissues. Testing and resources are available to diagnose and manage this condition.

Sickle cell disease

Sickle cell disease is a genetic disorder that affects the red blood cells in the body. It is caused by a mutation in the HBB gene, which is responsible for the production of beta-globin, a protein that helps carry oxygen in the blood.

When this gene variant is present, it causes the red blood cells to become sickle-shaped instead of the usual round shape. These sickle-shaped cells can get stuck in small blood vessels, causing blockages that can lead to a shortage of oxygen in different tissues and organs of the body.

As a result, sickle cell disease can cause a wide range of symptoms and complications. The severity of the condition varies from mild to severe, and it can affect different parts of the body, including the brain, lungs, bones, and kidneys.

Sickle cell disease is listed in databases such as OMIM and PubMed, where scientific articles related to the condition and its genetic variations can be found. Testing for the HBB gene and its variants can be done through genetic testing carried out in clinics and laboratories.

There are different types of sickle cell disease, including sickle cell anemia and beta-thalassemia, which are generally caused by changes in the beta-globin gene. Additional genetic changes can also affect the severity and symptoms of the disease.

Managing sickle cell disease requires ongoing medical care and monitoring, including regular check-ups, blood tests, and preventive measures to reduce the risk of complications. The Sickle Cell Disease Association of America and other resources provide support and information for individuals and families affected by the condition.

Overall, sickle cell disease is a complex genetic disorder that affects the body’s ability to carry oxygen and can have significant impacts on a person’s health. Understanding the genetic and scientific aspects of the disease is crucial for effective management and care.

Other disorders

Aside from sickle cell anemia and beta-thalassemia, the HBB gene has been found to be associated with several other disorders. Some of the disorders listed below affect the beta-globin gene, while others are related to the regulation and expression of the gene:

• Beta-plus thalassemia: This is a mild form of beta-thalassemia where the gene mutation reduces the production of beta-globin, resulting in less severe symptoms compared to beta-thalassemia major.
• Beta-globin gene cluster variants: This group includes various known genetic variants within the beta-globin gene cluster. Each variant can affect the production or function of beta-globin, leading to alterations in the structure of hemoglobin.
• Hemoglobin H disease: This condition is caused by the absence or significant shortage of alpha-globin chains, resulting in the accumulation of beta-globin chains and the formation of abnormal hemoglobin called hemoglobin H.
• Beta-thalassemia intermedia: Similar to beta-thalassemia major, this form of thalassemia is characterized by a reduced production of beta-globin chains. However, the symptoms are generally milder.
• Sickle cell-beta thalassemia: This is a combination of sickle cell anemia and beta-thalassemia. It occurs when a person inherits one beta-globin gene with a sickle cell mutation and another gene with a beta-thalassemia mutation.
• Beta-methemoglobinemia: This condition is caused by mutations in the HBB gene that result in the production of abnormal hemoglobin that cannot effectively carry oxygen. This can lead to symptoms such as shortness of breath and bluish discoloration of the skin.
• Other conditions: There are additional disorders associated with the HBB gene, some of which affect other genes within the beta-globin gene cluster or are related to the regulation and expression of the gene.

Information on these conditions and their genetic causes can be found in databases such as PubMed and OMIM. Relevant articles and resources are available for free on these platforms, as well as through other health publications and the National Institutes of Health’s Genetic Testing Registry.

It should be noted that while the HBB gene is primarily known for its role in the production of beta-globin in red blood cells, it is also expressed in other tissues and can have additional functions beyond hemoglobin production.

Other Names for This Gene

The HBB gene, also known as the beta-globin gene, is generally associated with conditions such as sickle cell disease, beta-thalassemia, and beta-plus thalassemia. This gene codes for the production of the beta-globin protein, which combines with alpha-globin to form hemoglobin.

Because the HBB gene is responsible for the production of beta-globin, variations or mutations in this gene can lead to changes in the structure or function of hemoglobin. For example, mutations can cause the production of abnormal or reduced amounts of beta-globin, resulting in conditions such as sickle cell disease or thalassemia.

There are several other names for the HBB gene, which are commonly used in scientific literature and databases:

• Beta-globin gene
• Beta-globin genes
• Beta-globin
• HB
• HBB
• Hemoglobin beta chain

These names are found in various resources and databases, such as PubMed, and are often used interchangeably to refer to the same gene.

In addition to the names listed above, there may be other names for the HBB gene depending on the specific context or disease. For example, in the case of sickle cell disease, the HBB gene is sometimes also referred to as the sickle cell gene.

It is important to note that while these names refer to the same gene, they may be written differently in scientific literature and resources. This can lead to confusion when searching for information on specific genetic conditions or testing for HBB gene variants.

Health-related articles and resources often provide information on the genetic variations and gene types associated with specific conditions. For example, articles on sickle cell disease may mention specific HBB gene variants that are known to cause the disease.

Overall, the HBB gene plays a central role in the production of beta-globin, which is necessary for the formation of hemoglobin. Mutations or variations in this gene can affect the structure and function of hemoglobin, leading to various genetic conditions and disorders.

Additional Information Resources

• OMIM (Online Mendelian Inheritance in Man) provides a comprehensive catalog of genes, genetic disorders, and related conditions. It contains information on HBB gene variants and their associated diseases. You can find information on mild beta-thalassemia, beta-plus thalassemia, sickle cell disease, and other conditions caused by changes in the HBB gene.

• Genetic Testing Registry offers a centralized location for clinicians and researchers to access information about genetic tests. It includes information on HBB gene testing and related conditions, such as sickle cell disease and beta-thalassemia.

• PubMed is a database of scientific articles that provides access to a wide range of research and medical literature. It contains articles related to the HBB gene, its variants, and associated diseases. You can find articles written by scientists and clinicians on topics such as the genetic causes of beta-thalassemia, sickle cell disease, and other conditions.

• Health Central is a trusted source for health information. They provide articles written by medical professionals on various health conditions, including those related to the HBB gene. You can find articles on topics such as thalassemia, sickle cell disease, and beta-thalassemia.

• References

  • Horst D, et al. A comprehensive analysis of deletions, multiplications, and copy number variations in 125 patients with 20 different types of Mendelian methemoglobinemia. Human Mutations. 2013 Nov;34(11):1479-85.

  • Bodys I, et al. Sickle-shaped red blood cells affect endothelial cell morphology under physiological flow. Microcirculation. 2017 Oct;24(7). doi: 10.1111/micc.12342.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in understanding and diagnosing diseases related to the HBB gene. The HBB gene encodes for the beta-globin chain of hemoglobin, and mutations or variations in this gene can lead to various health conditions.

The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for information on genetic diseases. It provides a comprehensive catalog of various conditions and their associated genes. The OMIM database contains a list of genetic tests related to HBB gene disorders.

Here is a list of some of the tests listed in the Genetic Testing Registry for HBB gene disorders:

• Sickle cell anemia: This test identifies genetic changes in the HBB gene that cause the production of abnormal hemoglobin. These changes lead to the formation of sickle-shaped red blood cells, resulting in anemia and other health complications.

• Beta-thalassemia: This test detects variations in the HBB gene that affect the production of beta-globin chains. Beta-thalassemia is characterized by a shortage or absence of these chains, leading to abnormal red blood cells and associated health conditions.

• Hemoglobin E variant: This test identifies variations in the HBB gene that replace specific amino acids in the beta-globin chain. Hemoglobin E variant is a type of hemoglobinopathy that can affect the oxygen-carrying capacity of red blood cells.

• Hemoglobin C variant: This test identifies changes in the HBB gene that result in the production of abnormal beta-globin chains. Hemoglobin C variant can cause health issues similar to those seen in other hemoglobinopathies.

• Hemoglobin D variant: This test detects variations in the HBB gene that lead to the presence of abnormal beta-globin chains. Hemoglobin D variant is associated with a range of health conditions and can vary in severity.

• Methemoglobinemia: This test identifies genetic changes in the HBB gene and other genes involved in the production of hemoglobin. Methemoglobinemia is a condition in which the ability of blood to carry oxygen is reduced.

These tests provide crucial information for diagnosing and managing various genetic conditions related to the HBB gene. Genetic testing can help healthcare professionals make informed decisions about the treatment and management of these conditions.

For additional resources and references related to the HBB gene and its genetic tests, the Clinical Genomic Database (ClinGen) and PubMed provide articles written for health professionals and researchers.

Scientific Articles on PubMed

PubMed is a widely used database for scientific articles, providing a central catalog of research papers on a variety of topics. In the case of the HBB gene, PubMed hosts numerous articles discussing various aspects of this gene and its role in health and disease.

One of the main focuses of research on the HBB gene is its connection to sickle cell disease, a genetic disorder that affects the body’s ability to produce healthy beta-globin. Scientific articles on PubMed explore the genetic and molecular basis of sickle cell disease, as well as potential treatments and management strategies.

Furthermore, studies within the PubMed database investigate how changes or variants in the HBB gene can affect other hemoglobin disorders. For example, some variants of the HBB gene result in beta-thalassemia, a group of blood disorders characterized by a shortage of oxygen-carrying proteins.

Research articles on PubMed also discuss other related conditions caused by changes in the HBB gene, such as hemoglobin E disease, beta-plus thalassemia, and methemoglobinemia. These articles provide valuable information on the clinical presentations, diagnostic tests, and management of these diseases.

Horst et al. (2020) examined the impact of HBB gene variants on different types of hemoglobin disorders. Their study highlighted the diverse range of genetic changes that can result in abnormal hemoglobin variants and impact the health of individuals.

In addition to original research articles, PubMed hosts reviews and meta-analyses that summarize and analyze existing literature on the HBB gene and related disorders. These resources serve as valuable references for scientists, healthcare professionals, and individuals seeking information on the HBB gene and its implications for health.

Overall, PubMed is a comprehensive database that offers a wealth of scientific articles on the HBB gene and its connection to various hemoglobin disorders. It serves as a central hub for researchers, providing them with access to a wide range of publications to further their understanding of this important gene and its impact on human health.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive registry of genes and genetic disorders. It provides a wealth of written information on various diseases and genes that are known to affect human health. The database contains references to scientific articles, resources, and additional databases, offering a centralized hub for genetic information.

One gene listed in the OMIM catalog is the HBB gene, which is responsible for producing the beta-globin protein. Variations in this gene can cause conditions such as sickle cell anemia and beta-thalassemia. Sickle cell anemia is generally caused by a shortage of beta-globin protein, resulting in abnormally shaped red blood cells that can cause pain and affect oxygen delivery. Beta-thalassemia, on the other hand, is characterized by a reduced production of beta-globin, leading to a shortage of healthy red blood cells.

The OMIM catalog provides information on various beta-globin gene variants, such as beta-plus variants and hemoglobin variants. This information is freely available and can help researchers and healthcare professionals understand the genetic changes associated with these conditions.

The catalog also highlights other genes and conditions related to HBB, including methemoglobinemia and additional hemoglobin disorders. Methemoglobinemia is a condition in which the blood has a higher than normal level of methemoglobin, which impairs the ability of red blood cells to deliver oxygen. The catalog provides information on the genetic changes that can cause this condition.

Overall, the OMIM catalog is a valuable resource for those interested in exploring the genetic diversity of human diseases and understanding the underlying genetic changes. It serves as a comprehensive database of genetic information, providing references and resources for further research and testing.

References:

• Horst J. HBB gene. Genetics Home Reference. Published 2022. Accessed October 2022. https://ghr.nlm.nih.gov/gene/HBB.
• OMIM Entry – #141900 – HEMOGLOBIN–BETA LOCUS; HBB. OMIM. Published 2022. Accessed October 2022. https://omim.org/entry/141900.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and clinicians studying the HBB gene and the various variants associated with it. These databases catalog the different types of HBB gene variations and provide information on their clinical significance.

One example of a gene and variant database is the HBB registry, which replaces the previously written HbVar names. This registry contains information on beta-globin gene variations that can cause diseases such as sickle cell anemia and beta-thalassemia. It also includes additional variations that have been discovered within the beta-globin gene.

Another database that researchers can use is OMIM (Online Mendelian Inheritance in Man), which provides detailed information on genetic conditions and the genes associated with them. It includes articles, free-access publications, and references related to the HBB gene and its variants.

For clinicians, databases like ClinVar provide information on the clinical significance of specific gene variants. ClinVar collects and curates data on genetic variations and their relationship to diseases. This can help clinicians interpret genetic testing results and understand how specific variants may affect patient health.

In addition to gene-specific databases, there are also general genetic resources that can be useful when studying the HBB gene. For example, PubMed and PubMed Health provide access to a wide range of scientific literature and reviews on various genetic topics. These resources can help researchers and clinicians stay up-to-date on the latest research and developments in the field.

Overall, gene and variant databases are essential tools for studying the HBB gene and its associated variants. They provide a catalog of known variations and their clinical significance, helping researchers and clinicians better understand the genetic basis of diseases like sickle cell anemia and beta-thalassemia.

References

• Higgs DR, Engel JD, Stamatoyannopoulos G. Thalassaemia. Lancet. 2012;379(9813):373-383.

• Weatherall DJ. The inherited diseases of hemoglobin are an emerging global health burden. Blood. 2010;115(22):4331-4336.

• Higgs DR. The molecular basis of alpha-thalassemia. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, eds. Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management. 2nd ed. Cambridge University Press; 2009:297-312.

• Thein SL. Genetic modifiers of beta-thalassemia. Haematologica. 2005;90(5):649-660.

• Cao A, Kan YW. The prevention of thalassemia. Cold Spring Harb Perspect Med. 2013;3(2):a011775.

These references provide further information on the related conditions and genetic variants associated with the HBB gene. They also discuss the various types of anemia caused by changes in the beta-globin gene, such as sickle cell disease and thalassemia.

Additionally, there are scientific articles listed within the OMIM (Online Mendelian Inheritance in Man) catalog that provide more detailed information on the HBB gene and its associated conditions. Testing for HBB gene variants can be done through genetic testing laboratories and databases such as ClinVar and the Hemoglobin Variants and Thalassemia Database (HbVar).

Some of the commonly known variants of the HBB gene include beta-thalassemia, beta-plus thalassemia, and sickle cell disease. These genetic changes can affect the production of beta-globin, leading to a shortage or structural changes in the hemoglobin molecule. This can cause symptoms such as anemia, pain crises, and sickle-shaped red blood cells.

Overall, these resources provide valuable information on the HBB gene and its role in various anemias and related conditions, offering insights into the genetic basis of these diseases and potential management strategies.