Sickle cell disease

Sickle cell disease is a genetic condition that affects the shape of red blood cells. It is named after the sickle-shaped cells that are characteristic of the disease. People with sickle cell disease typically have episodes of pain called crises, as well as other symptoms and complications, such as anemia, lung problems, and hypertension.

Research and testing have provided valuable information about the genetics and causes of sickle cell disease. Both scientific studies and clinical trials have been conducted to learn more about this rare condition. Testing can be done to diagnose sickle cell disease and determine its severity. Additional support and resources are available from advocacy organizations, research centers, and information catalogs.

To find more articles and information about sickle cell disease, you can search PubMed, a database of scientific articles, or ClinicalTrials.gov, a registry of clinical trials. These resources can provide more in-depth information about the disease, its causes, associated genetic factors, and available treatments. References and citations from these sources can also be found in the search results.

Frequency

Sickle cell disease is an autosomal recessive genetic condition that affects the hemoglobin protein in red blood cells. It is most commonly inherited from both parents who are carriers of the sickle cell gene.

The frequency of sickle cell disease varies among different populations. It is more common among individuals of African, Mediterranean, Middle Eastern, and Indian descent. In these populations, the incidence of sickle cell disease is higher due to a higher frequency of the sickle cell gene.

Research studies have shown that sickle cell disease occurs in about 1 in every 365 African American births. The disease also affects other ethnic groups, but with less frequency.

Sickle cell disease causes red blood cells to become sickle-shaped, which can lead to various health problems such as anemia, organ damage, and vaso-occlusive crises. The disease is associated with complications such as pulmonary hypertension and stroke.

Genetic testing and counseling can help identify carriers of the sickle cell gene and provide information for making informed decisions about family planning. Testing can be done in specialized genetic centers or through commercial genetic testing companies.

Support and advocacy organizations, such as the Sickle Cell Disease Association of America, offer additional resources for patients and their families to learn more about the disease, find clinical trials, and access support services.

For more scientific information about sickle cell disease, you can refer to the scientific literature and research articles available on PubMed and clinicaltrialsgov. Online resources like Online Mendelian Inheritance in Man (OMIM) and the National Human Genome Research Institute (NHGRI) also provide comprehensive information on genetic diseases and associated genes.

Causes

The cause of sickle cell disease is a scientific understanding of the genes that are associated with the disease. Sickle cell disease is inherited, meaning it is passed on from parents to their children through genes. This type of inheritance is called autosomal recessive inheritance.

People with sickle cell disease have a mutation in the HBB gene, which provides instructions for making a protein called hemoglobin. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. The mutation in the HBB gene causes the production of abnormal hemoglobin, known as sickle hemoglobin or HbS.

When a person has two copies of the sickle cell gene (one from each parent), their red blood cells become sickle-shaped. These sickle-shaped cells can get stuck in small blood vessels, blocking blood flow and causing pain and other symptoms.

In addition to sickle cell disease, there are other less common genetic diseases that are caused by mutations in the HBB gene. Some of these diseases include sickle cell-hemoglobin C disease, sickle cell-beta thalassemia, and other variants. Each variant is caused by a different combination of gene mutations.

The frequency of sickle cell disease varies among different populations. It is more common in people of African, Mediterranean, Middle Eastern, and Indian descent, but it can occur in any population. In the United States, sickle cell disease affects about 1 in every 365 African-American births and about 1 in every 16,300 Hispanic-American births.

There is ongoing scientific research and genetic studies to learn more about the causes of sickle cell disease and related genetic diseases. ClinicalTrials.gov and PubMed are two resources that provide several articles and studies about the genetic causes of the disease.

Some additional causes and factors that can affect a person with sickle cell disease include:

  • Infections: People with sickle cell disease are more susceptible to infections, particularly in the lungs.
  • Pulmonary hypertension: Sickle cell disease can cause high blood pressure in the lungs, which can lead to pulmonary hypertension.
  • Other diseases: Sickle cell disease can increase the risk of other health problems, such as stroke, kidney damage, and organ damage.
  • Testing and genetic counseling: Genetic testing can help determine whether a person carries the sickle cell gene. Genetic counseling can provide information and support for individuals and families affected by sickle cell disease.
  • Advocacy and support: There are various advocacy organizations and support groups that provide resources and support for individuals and families affected by sickle cell disease.

This information about the causes of sickle cell disease can be found in scientific articles, clinical studies, and genetic databases such as OMIM (Online Mendelian Inheritance in Man) and the Catalog of Human Genetic Variants. It is important for individuals and healthcare professionals to stay informed about the latest research and advances in understanding the causes and management of sickle cell disease.

Learn more about the gene associated with Sickle cell disease

Sickle cell disease is a genetic condition that affects the structure of hemoglobin, the protein in red blood cells responsible for carrying oxygen throughout the body. People with sickle cell disease have red blood cells that are crescent or sickle-shaped, instead of the normal round shape. These abnormal red blood cells can cause a range of symptoms and health problems, including pain, organ damage, and increased risk of infections. Sickle cell disease is a chronic condition that can affect a person’s quality of life and overall health.

Sickle cell disease is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the abnormal gene, one from each parent, in order to develop the disease. When both parents are carriers of the sickle cell gene, there is a 25% chance with each pregnancy that their child will have sickle cell disease. Carriers of a single copy of the gene, also known as sickle cell trait, typically do not show symptoms of the disease but can pass the gene on to their children.

The gene associated with sickle cell disease is called HBB, which stands for hemoglobin subunit beta. The HBB gene provides instructions for making beta globin, a component of hemoglobin. Mutations in the HBB gene cause changes in the structure and function of beta globin, leading to the production of abnormal hemoglobin and the characteristic sickle-shaped red blood cells.

Research studies have identified several different mutations in the HBB gene that can cause sickle cell disease. The most common mutation is known as the HbS mutation, which results in the production of abnormal hemoglobin called hemoglobin S (HbS). Other less common mutations, such as HbC, HbD, and HbE, can also cause similar symptoms and health problems.

Testing for the presence of the HBB gene mutations can help diagnose sickle cell disease and determine a person’s carrier status. Genetic testing can also provide valuable information for reproductive planning and family counseling.

If you would like to learn more about the HBB gene and its association with sickle cell disease, there are several reliable resources available. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information about genes and genetic disorders, including sickle cell disease. PubMed, a database of scientific articles, has a wealth of research studies on sickle cell disease and the HBB gene. Additionally, advocacy and patient support organizations, such as the Sickle Cell Disease Association of America and the American Sickle Cell Anemia Association, can provide additional information and resources on sickle cell disease.

The frequency of sickle cell disease varies among different populations. It is most common in people of African, Mediterranean, Middle Eastern, and Indian descent. However, sickle cell disease can occur in individuals from any ethnic background.

It is important to note that sickle cell disease is a complex condition that can cause a range of health problems beyond the blood. Pulmonary hypertension, a condition characterized by high blood pressure in the arteries of the lungs, is one of the complications associated with sickle cell disease. Ongoing research and clinical trials are focused on understanding the underlying causes of sickle cell disease and developing new treatments to improve the quality of life for people living with this condition.

See Also:  HOXB13 gene

In conclusion, the HBB gene is the gene associated with sickle cell disease. Mutations in this gene cause changes in the structure and function of hemoglobin, resulting in the production of abnormal, sickle-shaped red blood cells. Genetic testing can help diagnose sickle cell disease and determine carrier status. There are various resources available to learn more about the HBB gene and sickle cell disease, including scientific databases, advocacy organizations, and patient support groups.

Inheritance

The inheritance of sickle cell disease is autosomal recessive, which means it is caused by mutations in both copies of the hemoglobin gene. Individuals who inherit one mutated copy of the gene will have sickle cell trait, which means they carry the sickle cell mutation but generally do not experience symptoms of the disease. However, in certain conditions, such as low oxygen levels in the blood, sickle cell trait can cause health problems.

Sickle cell disease is most commonly inherited from parents who both carry the sickle cell trait. When both parents have the trait, there is a 25% chance with each pregnancy of having a child with sickle cell disease, a 50% chance of having a child with sickle cell trait, and a 25% chance of having a child without the trait or disease.

The sickle cell mutation affects the shape of red blood cells, causing them to become sickle-shaped instead of the normal disc shape. This can lead to issues such as blockages in small blood vessels, which can cause pain and organ damage. It can also cause chronic anemia and increase the risk of infections.

There are other genetic diseases associated with sickle cell disease, such as sickle cell-beta thalassemia, which is caused by mutations in both the hemoglobin gene and the beta thalassemia gene. This combination can result in a more severe form of the disease.

Clinical trials and research studies are ongoing to learn more about the inheritance, causes, and treatment of sickle cell disease. Testing for sickle cell disease can be done through genetic testing, and more information can be found on websites such as clinicaltrials.gov, OMIM (Online Mendelian Inheritance in Man), PubMed, and the Centers for Disease Control and Prevention. These resources provide scientific articles, patient advocacy and support, clinical trial information, and more.

Other Names for This Condition

Sickle cell disease, also known as sickle cell anemia, is a genetic condition that typically inherits in an autosomal recessive pattern. It is a rare genetic disease that causes the red blood cells to become sickle-shaped.

There are several other names for this condition, including:

  • Sickle cell syndrome
  • Sickle cell disorder
  • Sickle cell hemoglobinopathy
  • Sickle hemoglobin C disease
  • Hemoglobin SS disease
  • Sickle cell-beta thalassemia
  • Sickle cell disease, not elsewhere classified

This condition can cause a variety of health problems, including sickle cell crisis, acute chest syndrome, and pulmonary hypertension. It is associated with chronic pain, anemia, and other complications.

Diagnosis of sickle cell disease can be confirmed through genetic testing. Genetic testing can identify the specific gene mutations associated with the condition. Testing can be done through a variety of methods, including blood tests and specialized DNA testing.

Patient advocacy groups and research centers focused on sickle cell disease provide support, information, and resources for both patients and healthcare professionals. Scientific articles, studies, and clinical trials can be found on websites such as PubMed, OMIM, and ClinicalTrials.gov.

For additional information about sickle cell disease and related genetic diseases, the Online Mendelian Inheritance in Man (OMIM) and the Genetic Testing Registry (GTR) provide comprehensive resources and references.

References:
1. Sickle cell disease. OMIM. Retrieved from https://www.omim.org/entry/603903
2. Sickle cell disease. Genetic Testing Registry (GTR). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/conditions/C0023449/
3. Rohrbach, M., Hildebrandt, F., & Zenker, M. (2011). Sickle cell anemia. In GeneReviews(r). Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1377/

Additional Information Resources

For additional information on sickle cell disease, you can refer to the following resources:

  • Patient Information: Learn more about sickle cell disease from patient resources such as the Sickle Cell Disease Association of America (SCDAA) and the American Sickle Cell Anemia Association (ASCAA).

  • Genetic Testing and Inheritance: For information on genetic testing and inheritance patterns associated with sickle cell disease, visit the Online Mendelian Inheritance in Man (OMIM) database.

  • Scientific Articles and Research: Stay up to date with the latest scientific research and studies on sickle cell disease by exploring articles in PubMed, a database of scientific publications.

  • Support and Advocacy: Connect with support groups and advocacy organizations, such as the Sickle Cell Disease Research & Testing Center (SCDRTC), to find additional resources and support for sickle cell disease.

  • Genetic Diseases Catalog: The Genetic Diseases Catalog provides information on genetic diseases, including sickle cell disease, their causes, associated genes, and inheritance patterns.

  • Clinical Trials: Stay informed about ongoing clinical trials related to sickle cell disease by visiting the ClinicalTrials.gov website.

These resources can provide you with more information to understand the causes, symptoms, testing, and treatment options for sickle cell disease.

Genetic Testing Information

Sickle cell disease is a genetic condition that affects the shape of red blood cells. It is caused by a mutation in the HBB gene, which leads to the production of abnormal hemoglobin. This abnormal hemoglobin causes red blood cells to become sickle-shaped instead of their normal round shape.

Genetic testing can be done to diagnose sickle cell disease and to determine if a person is a carrier of the gene mutation. Testing can be done by analyzing a blood sample to look for the presence of the HBB gene mutation. This information can be helpful for patients and their families, as it can help provide a better understanding of the disease and its inheritance pattern.

In addition to sickle cell disease, genetic testing can also be used to diagnose other genetic diseases and conditions. This testing can help in the identification of gene mutations associated with diseases such as pulmonary hypertension and other rare blood disorders.

Genetic testing can also be used in research studies and clinical trials. By analyzing the genes of individuals with sickle cell disease, researchers can learn more about the causes of the disease and develop more effective treatments. ClinicalTrials.gov provides information about ongoing studies and clinical trials related to sickle cell disease and genetic testing.

There are also advocacy and support resources available for individuals and families affected by sickle cell disease. These resources can provide additional information and support for patients and their loved ones. Some resources include websites, articles, and support groups that focus on genetic testing and related diseases.

References:

  • Online Mendelian Inheritance in Man (OMIM) – a catalog of human genes and genetic disorders
  • PubMed – a collection of scientific articles from biomedical literature
  • ClinicalTrials.gov – a database of clinical studies and trials

By learning more about genetic testing and sickle cell disease, individuals and healthcare providers can better understand the inheritance and frequency of the disease, as well as the associated genes and conditions.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable and up-to-date information about genetic and rare diseases, including sickle cell disease. GARD is an excellent resource for both patients and healthcare professionals seeking to learn more about this condition.

Sickle cell disease is a genetic disorder characterized by sickle-shaped red blood cells. This condition is typically inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the gene mutation for it to occur in their child.

GARD offers a comprehensive catalog of genes associated with sickle cell disease, as well as information on the causes, symptoms, and inheritance patterns of the condition. The website also provides additional resources such as articles, scientific studies, and references from PubMed, OMIM, and other sources.

For patients interested in participating in research studies or clinical trials, GARD provides links to clinicaltrials.gov, where they can find information about ongoing studies and testing associated with sickle cell disease. This can be a valuable resource for individuals looking to contribute to the scientific understanding and treatment of this condition.

GARD also offers support and advocacy resources for individuals and families affected by sickle cell disease. The website provides information on support groups, patient organizations, and other resources that can help individuals navigate the challenges associated with living with this condition.

In summary, the Genetic and Rare Diseases Information Center (GARD) provides a wealth of information about sickle cell disease. Whether you are a patient, healthcare professional, or researcher, GARD offers a comprehensive and reliable source of knowledge about this genetic disorder.

See Also:  Miller-Dieker syndrome

Patient Support and Advocacy Resources

Patient support and advocacy resources can provide individuals with information, support, and assistance related to sickle cell disease and its associated conditions. These resources can help patients and their families better understand the disease, connect with other individuals living with the condition, and access additional support and services.

There are several patient support and advocacy resources available online, including:

  • Sickle Cell Disease Association of America (SCDAA): SCDAA is a national organization that provides support and advocacy for individuals with sickle cell disease and their families. Their website offers resources on disease management, educational materials, and links to support groups and community events.
  • Sickle Cell Information Center (SCIC): SCIC is an online resource that provides comprehensive information about sickle cell disease. Their website features articles on the causes and symptoms of the disease, information on genetic testing, and research updates.
  • NIH Genetic Testing Registry: The NIH Genetic Testing Registry provides information about genetic tests for sickle cell disease and other genetic conditions. The registry includes information on the purpose of each test, its clinical validity, and availability.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Their database provides detailed information on the genetic basis of sickle cell disease, including associated genes and inheritance patterns.
  • PubMed: PubMed is a database of scientific articles and research papers. It includes a wide range of publications on sickle cell disease, including studies on its causes, clinical trials, and management strategies.

In addition to these resources, clinicaltrials.gov provides information on ongoing clinical trials related to sickle cell disease. These trials investigate new treatments, drugs, and interventions to improve patient outcomes.

By utilizing these resources, individuals living with sickle cell disease can learn more about their condition, find support from others who understand their experiences, and stay informed about the latest research and treatment options.

Research Studies from ClinicalTrialsgov

Sickle cell disease is a rare genetic condition that causes the red blood cells to be sickle-shaped, which can lead to a variety of health problems. Research studies from ClinicalTrialsgov provide valuable information and resources for understanding this disease and finding ways to improve patient care.

ClinicalTrialsgov is a comprehensive database that catalogs clinical research studies from around the world. The site provides information on ongoing and completed studies, as well as resources for patients and advocacy groups.

Genetic testing is an important tool for diagnosing sickle cell disease. It can identify the specific genes that are responsible for the inheritance of this condition. By testing both the patient and their parents, healthcare providers can learn more about the genetic basis of the disease and develop targeted treatment strategies.

ClinicalTrialsgov provides a wealth of information on genetic studies related to sickle cell disease. These studies investigate various aspects of the disease, including the frequency and associated genes. By studying the genetic factors that contribute to sickle cell disease, researchers can better understand the underlying mechanisms and develop new treatments.

In addition to genetic studies, ClinicalTrialsgov also features research on other aspects of sickle cell disease, such as pulmonary hypertension. This condition, which affects the blood vessels in the lungs, can occur in individuals with sickle cell disease and can cause serious health problems. Research studies focused on pulmonary hypertension help to improve our understanding of this complication and develop better treatment options.

ClinicalTrialsgov is a valuable resource for healthcare providers, researchers, and patients alike. It provides a platform for sharing scientific articles, clinical trial information, and other relevant resources. By staying up-to-date with the latest research from ClinicalTrialsgov, healthcare providers can offer their patients the most advanced and evidence-based care.

References to scientific articles, genetic testing resources, and advocacy organizations can be found on ClinicalTrialsgov and other databases such as PubMed and OMIM. These resources provide additional information and support to individuals and families affected by sickle cell disease.

Key Points about Research Studies from ClinicalTrialsgov:
1 ClinicalTrialsgov provides information on ongoing and completed research studies related to sickle cell disease.
2 Genetic testing plays a crucial role in diagnosing sickle cell disease and understanding its inheritance.
3 Studies on the genetic factors associated with sickle cell disease contribute to our knowledge of the disease and help develop targeted treatments.
4 Research studies on complications of sickle cell disease, such as pulmonary hypertension, provide insights into improving patient care.
5 ClinicalTrialsgov and other databases offer additional resources and support for individuals and families affected by sickle cell disease.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a catalog of genes, genetic diseases, and genetic conditions, along with references supporting the information. OMIM provides a comprehensive resource for researchers, clinicians, and advocacy groups to learn more about the genetic causes of diseases.

Sickle cell disease is one of the diseases listed in OMIM. It is caused by mutations in the HBB gene, which leads to the production of abnormal hemoglobin. The sickle-shaped red blood cells that result from this genetic condition can cause a variety of health problems, including pulmonary hypertension and other complications.

OMIM provides additional information about sickle cell disease and other related diseases. It includes the frequency of occurrence, inheritance patterns, clinical manifestations, and names of associated genes. The catalog also includes citations to scientific articles, clinical trials, and resources for genetic testing.

For example, the catalog lists the HBB gene as the primary gene associated with sickle cell disease. It also references studies and articles from PubMed and clinicaltrials.gov that provide more information and support for this genetic condition.

OMIM is a valuable resource for both scientific research and patient advocacy. Its comprehensive catalog of genes and diseases, along with the references and resources it provides, support further study and testing for these genetic conditions.

By using OMIM, researchers, clinicians, and advocacy groups can access a wealth of information related to sickle cell disease and other related genetic diseases. This helps them better understand the causes, symptoms, and potential treatments for these conditions.

References:

  1. OMIM: Online Mendelian Inheritance in Man. Available at: https://omim.org/
  2. PubMed: National Library of Medicine. Available at: https://pubmed.ncbi.nlm.nih.gov/
  3. ClinicalTrials.gov: U.S. National Library of Medicine. Available at: https://clinicaltrials.gov/

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable research and information about sickle cell disease and its associated conditions. PubMed is a resource that hosts a comprehensive catalog of scientific articles related to various diseases and conditions.

Sickle cell disease, also known as sickle cell anemia, is a rare genetic condition caused by a mutation in the HBB gene. This gene is responsible for the production of hemoglobin, a protein that helps carry oxygen in red blood cells. In individuals with sickle cell disease, the HBB gene mutation causes the production of abnormal hemoglobin, resulting in sickle-shaped red blood cells.

This genetic condition is inherited in an autosomal recessive manner, meaning that both parents must be carriers of the HBB gene mutation for it to occur in their child. This condition is more common in certain populations, such as those of African, Mediterranean, Middle Eastern, and Indian descent.

Scientific articles on PubMed provide information about the clinical features, diagnosis, treatment, and management of sickle cell disease. These articles also explore the associated complications and conditions that individuals with sickle cell disease may experience, such as pulmonary hypertension, pulmonary complications, and other diseases.

PubMed also provides resources for genetic testing and research studies. ClinicalTrials.gov, a database of clinical research studies, is often referenced in scientific articles on PubMed, offering information about ongoing and completed clinical trials related to sickle cell disease.

Advocacy organizations and patient support groups are additional resources for individuals and families affected by sickle cell disease. These organizations provide educational materials, support networks, and information about available treatments and resources.

Scientific articles on PubMed are a valuable source of scientific information for healthcare professionals, researchers, and individuals seeking to learn more about sickle cell disease and related conditions. Accessing these articles can help increase understanding, improve patient care, and contribute to ongoing research efforts in the field of sickle cell disease.

References

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