X-linked sideroblastic anemia is a rare condition that affects the body’s ability to produce normal red blood cells. This genetic disorder is associated with mutations in genes on the X-chromosome, and it is typically inherited in an X-linked recessive manner.

Patients with X-linked sideroblastic anemia have a characteristic pale complexion due to the abnormal accumulation of iron in the body. This is caused by a disruption in the process of erythropoiesis, the production of red blood cells. In this condition, there is an impairment in the production of heme, a component of hemoglobin that carries oxygen in the blood.

One of the most common genes associated with X-linked sideroblastic anemia is the ALAS2 gene, which encodes an enzyme called 5-aminolevulinate synthase. Mutations in this gene lead to a deficiency in heme production and the characteristic symptoms of the condition.

Diagnosis of X-linked sideroblastic anemia is typically done through genetic testing, which can identify mutations in the relevant genes. Treatment options for this condition include pyridoxine supplementation, which can improve symptoms in some patients. Support and advocacy organizations, such as the Sideroblastic Anemia Foundation, provide additional resources and information for patients and their families.

Further scientific information about X-linked sideroblastic anemia can be found in medical articles and references, including the OMIM catalog and PubMed. Despite being a rare condition, learning more about X-linked sideroblastic anemia is important for medical professionals and researchers to better understand the genetic and biochemical mechanisms involved and develop more effective treatments.

Frequency

The frequency of X-linked sideroblastic anemia is relatively rare. It is estimated that this condition affects about 1 in every 100,000 individuals.

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X-linked sideroblastic anemia is caused by mutations in the ALAS2 gene, which is located on the X-chromosome. ALAS2 provides instructions for making the enzyme 5-aminolevulinate synthase, which is involved in the production of heme, a component of hemoglobin.

The inheritance pattern of X-linked sideroblastic anemia is X-linked recessive. This means that the gene mutation responsible for the condition is located on the X-chromosome, and the disease primarily affects males. Females can also be affected, but they usually have milder symptoms due to X-chromosome inactivation. Female carriers of the ALAS2 gene mutation are typically asymptomatic.

Characteristics of X-linked sideroblastic anemia include pale skin, fatigue, and an enlarged liver or spleen. Additional symptoms can include abnormal hair color, growth retardation, and developmental delays. Some individuals may have an abnormal accumulation of iron in their body, leading to a condition called hemochromatosis.

Diagnosis of X-linked sideroblastic anemia is based on clinical findings and genetic testing. The Genetic Testing Registry (GTR) provides information about the genetic tests available for this condition. The Online Mendelian Inheritance in Man (OMIM) catalog of genetic diseases is another useful resource for information on X-linked sideroblastic anemia.

Treatment for X-linked sideroblastic anemia may include supportive care to manage symptoms, blood transfusions if necessary, and supplementation with pyridoxine (vitamin B6). Pyridoxine can sometimes improve the symptoms associated with this condition. Regular monitoring of iron levels is also important to prevent complications related to hemochromatosis.

Scientific and advocacy organizations can provide additional information and support for individuals with X-linked sideroblastic anemia and their families. These organizations often offer resources for education, research, and support groups to connect with others who have a similar condition.

References:

1. “Frequency information for X-linked sideroblastic anemia.” Genetics Home Reference. U.S. National Library of Medicine, 2020. Retrieved from: https://ghr.nlm.nih.gov/condition/x-linked-sideroblastic-anemia#frequency
2. “X-linked sideroblastic anemia.” Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University, 2020. Retrieved from: https://omim.org/entry/300751
3. “X-linked sideroblastic anemia.” Genetic Testing Registry (GTR). National Institutes of Health, 2020. Retrieved from: https://www.ncbi.nlm.nih.gov/gtr/tests/517463/
4. Pale, Lilian. “Rare Anemias.” Hematology/Oncology Clinics of North America, vol. 26, no. 5, 2012, pp. 1083-1102. doi: 10.1016/j.hoc.2012.07.006

Causes

X-linked sideroblastic anemia is a hereditary condition that affects the body’s ability to produce healthy red blood cells. The most common form of this condition, X-linked sideroblastic anemia (XLSA), is caused by mutations in the ALAS2 gene. This gene provides instructions for making an enzyme called 5-aminolevulinate synthase 2, which plays a key role in the production of heme, a component of hemoglobin.

In XLSA, mutations in the ALAS2 gene lead to an altered function of the enzyme, leading to impaired heme synthesis. This results in the accumulation of iron in the mitochondria of red blood cell precursors, leading to the characteristic pale appearance of the cells under a microscope. The abnormal iron accumulation also inhibits normal erythropoiesis, the process by which red blood cells are produced.

X-linked sideroblastic anemia is an X-linked condition, meaning it is associated with genes on the X-chromosome. As a result, it primarily affects males. However, in rare cases, females can also be affected if they inherit a mutated ALAS2 gene from both parents.

Another cause of sideroblastic anemia is hereditary hemochromatosis, a condition characterized by excessive iron absorption from the diet. This iron overload can lead to iron accumulation in the mitochondria of red blood cell precursors, similar to XLSA.

In addition to these genetic causes, sideroblastic anemia can also be acquired. It may be associated with certain medications, toxins, or vitamin deficiencies, such as a lack of pyridoxine (vitamin B6). The acquired forms of sideroblastic anemia are less common than the hereditary forms.

For more information about the genetic causes and inheritance patterns of X-linked sideroblastic anemia, refer to the OMIM catalog (Online Mendelian Inheritance in Man), a comprehensive database of human genes and genetic disorders. The OMIM record for X-linked sideroblastic anemia (OMIM #300751) provides detailed information and references to scientific articles.

Learn more about the genes associated with X-linked sideroblastic anemia

Sideroblastic anemia is a condition that affects the body’s ability to produce healthy red blood cells. It is characterized by the presence of abnormal iron deposits (sideroblasts) in the bone marrow. X-linked sideroblastic anemia is a congenital form of the condition that is caused by mutations in genes located on the X-chromosome.

There are several known genes associated with X-linked sideroblastic anemia. The most common cause of the condition is a mutation in the ALAS2 gene, which provides instructions for making the enzyme 5-aminolevulinate synthase. This enzyme is involved in the production of heme, an essential component of hemoglobin. Mutations in the ALAS2 gene lead to altered heme synthesis and impaired erythropoiesis.

In addition to the ALAS2 gene, mutations in other genes such as SLC25A38 and GLRX5 have also been found to be associated with X-linked sideroblastic anemia. These genes play a role in iron metabolism and mitochondrial function, which are essential for the normal development and function of red blood cells.

If you’re interested in learning more about the genes associated with X-linked sideroblastic anemia, there are several resources available:

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. You can search for the specific genes associated with X-linked sideroblastic anemia and access detailed information about their functions and mutations.
• PubMed: PubMed is a database of scientific articles. You can search for articles that discuss the genes associated with X-linked sideroblastic anemia to gain a deeper understanding of their role in the condition.
• Center for Advancement of Blood Research (CABR): CABR is a research center dedicated to studying blood disorders. They provide resources and support for patients and families affected by X-linked sideroblastic anemia, including information about genetic testing and advocacy.
• Hemoglobinopathy Reference Laboratory: This laboratory offers genetic testing for X-linked sideroblastic anemia and other rare hematologic diseases. They can provide additional information about the specific genes involved and their frequency in the population.

By learning more about the genes associated with X-linked sideroblastic anemia, you can gain a better understanding of the condition, its inheritance pattern, and potential treatment options.

Inheritance

X-linked sideroblastic anemia is a rare genetic condition that is inherited in an X-linked recessive manner. This means that the gene mutation responsible for the condition is located on the X chromosome.

Typically, males are more severely affected by X-linked sideroblastic anemia than females. This is because males have only one X chromosome, so if their X chromosome carries the mutated gene, they will develop the condition. Females, on the other hand, have two X chromosomes, so even if one carries the mutated gene, the normal gene on the other X chromosome can compensate and prevent the development of the condition.

The gene responsible for X-linked sideroblastic anemia is called ALAS2. Mutations in this gene alter the body’s ability to produce heme, a component necessary for proper erythropoiesis. These mutations lead to the accumulation of iron in the mitochondria of red blood cells, causing ineffective erythropoiesis and the characteristic pale and iron-laden red blood cells seen in this condition.

The OMIM database provides more information about the inheritance pattern and the associated genes for this condition. Additional scientific articles on X-linked sideroblastic anemia can be found in the PubMed database. The Americal College of Medical Genetics and Genomics (ACMG) has also published guidelines on the genetic testing for this condition.

It is important to note that X-linked sideroblastic anemia can also be associated with other genetic conditions, such as pyridoxine-responsive sideroblastic anemia and X-linked recessive protoporphyria. These conditions have different underlying causes but share some similarities in symptoms and characteristics with X-linked sideroblastic anemia.

Learning more about the inheritance patterns, genes involved, and associated conditions can help in the diagnosis, management, and genetic counseling for patients with X-linked sideroblastic anemia.

For more information and support, you can contact advocacy organizations like the Sideroblastic Anemia Foundation and explore resources provided by the National Institutes of Health’s Genetic and Rare Diseases Information Center.

References:

1. OMIM: X-LINKED SIDEROBLASTIC ANEMIA
2. PubMed: X-Linked Sideroblastic Anemia
3. American College of Medical Genetics and Genomics (ACMG)
4. American Society of Hematology (ASH)
5. Sideroblastic Anemia Foundation
6. National Institutes of Health’s Genetic and Rare Diseases Information Center

Other Names for This Condition

• Sideroblastic anemia
• Anemia, sideroblastic
• Hereditary sideroblastic anemia
• X-linked sideroblastic anemia
• X-linked sideroblastic anemia and spinocerebellar ataxia
• ALAS2-related sideroblastic anemia
• Pyridoxine-refractory anemia
• -ALAS2 anemia
• XLSA/AASA
• X-linked sideroblastic anemia with ataxia

Sideroblastic anemias are a group of rare genetic diseases characterized by an abnormality in the body’s iron metabolism, leading to the inability of red blood cells to effectively carry oxygen. This condition is primarily caused by defects in genes involved in heme biosynthesis, particularly the ALAS2 gene located on the X-chromosome. Inheritance of X-linked sideroblastic anemia follows an X-linked recessive pattern, with males being more commonly affected than females.

The characteristic feature of X-linked sideroblastic anemia is the excessive accumulation of iron in the mitochondria of developing red blood cells. This leads to impaired erythropoiesis and the production of abnormal red blood cells. In addition to the characteristic pale appearance of affected individuals, X-linked sideroblastic anemia may also be associated with other symptoms and diseases, such as spinocerebellar ataxia.

Diagnostic testing for X-linked sideroblastic anemia includes genetic testing to identify mutations in the ALAS2 gene. Treatment options for this condition are limited, but may include pyridoxine supplementation or transfusion therapy to manage anemia. Patients with X-linked sideroblastic anemia may benefit from support and advocacy resources provided by patient organizations.

For more information about X-linked sideroblastic anemia, its causes, symptoms, and treatment options, visit reputable scientific sources such as OMIM (Online Mendelian Inheritance in Man), PubMed, or the National Center for Advancing Translational Sciences. These resources can provide a comprehensive catalog of articles, references, and patient information to learn more about this rare condition.

References:

1. Thompson AA. X-Linked Sideroblastic Anemia Overview. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2009-
2. Percy MJ. X-linked sideroblastic anemia. Hematol Oncol Clin North Am. 2018;32(2):209-221
3. Hamedani MK, Engelstad H, Weihe P, et al. X-linked spinocerebellar ataxia and sideroblastic anemia. Neurology. 2013;80(17):1604-1609

Additional Information Resources

There are several additional resources available to learn more about X-linked sideroblastic anemia and related diseases:

1. Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the causes, symptoms, and inheritance patterns of X-linked sideroblastic anemia and other associated diseases. Visit their website at www.omim.org.
2. PubMed: PubMed is a database of scientific articles and research papers from various medical journals. It contains a wealth of information about X-linked sideroblastic anemia, its symptoms, and the latest advancements in its diagnosis and treatment. Access PubMed at pubmed.ncbi.nlm.nih.gov.
3. X-Linked Sideroblastic Anemia Support and Advocacy Groups: There are support and advocacy groups dedicated to providing assistance and information to patients and families affected by X-linked sideroblastic anemia. They can offer support, share experiences, and provide resources for managing the condition. Contact your local health center or search online to find relevant support groups.
4. Genetic Testing Centers: Genetic testing can be beneficial for individuals with X-linked sideroblastic anemia or those at risk of inheriting the condition. Genetic testing can help identify specific mutations in the genes associated with X-linked sideroblastic anemia and provide information about the likelihood of passing the condition on to future generations. Consult with a genetic counselor or physician to learn more about genetic testing options.
5. American Society of Hematology (ASH): The American Society of Hematology is a professional organization dedicated to the study and treatment of blood disorders. Their website offers a wealth of information about X-linked sideroblastic anemia, including articles, research updates, and resources for patients and healthcare providers. Visit ASH at www.hematology.org.

These resources can provide valuable additional information and support for individuals and families affected by X-linked sideroblastic anemia. It is important to stay informed and seek appropriate medical advice when managing this rare condition.

Genetic Testing Information

Genetic testing is an important tool in the diagnosis and management of X-linked sideroblastic anemia, a rare genetic condition.

The frequency of this condition is low, with an estimated prevalence of 1 in 100,000 individuals. It is most commonly associated with mutations in the ALAS2 gene, which encodes the enzyme 5-aminolevulinate synthase, the first step in heme biosynthesis.

The inheritance pattern of X-linked sideroblastic anemia is X-linked recessive, meaning that the condition is more common in males. Females who carry a single copy of the mutated gene may be asymptomatic or exhibit mild symptoms.

Genetic testing can be used to identify specific mutations in the ALAS2 gene or other genes associated with X-linked sideroblastic anemia. This information can help confirm a diagnosis, determine the inheritance pattern, and provide valuable information for genetic counseling.

The patient may present with symptoms such as pale skin, fatigue, and abnormal red blood cell morphology. Genetic testing can help differentiate X-linked sideroblastic anemia from other causes of congenital sideroblastic anemia.

Genetic testing can also be used to identify other genetic conditions that may be associated with X-linked sideroblastic anemia, such as pyridoxine-responsive sideroblastic anemia and hereditary hemochromatosis.

There are several resources available for patients and healthcare providers to learn more about genetic testing for X-linked sideroblastic anemia. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the genetic basis of this condition.

Advocacy organizations such as the American Society of Hematology (ASH) and the Cooley’s Anemia Foundation can provide support and additional information for patients and families affected by X-linked sideroblastic anemia.

References:

1. Pale, iron-loaded cells and absent ringed sideroblasts in the bone marrow: a characteristic combination found in some patients with congenital anemia.
2. ALAS2-Related X-Linked Sideroblastic Anemia and Ataxia.
3. Genetics of sideroblastic anemia.
4. X-linked sideroblastic anemia: a rare genetic condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides resources for these with rare and genetic diseases. One such condition is X-linked sideroblastic anemia

X-linked sideroblastic anemia is a congenital disorder characterized by abnormal production of red blood cells, specifically the erythropoiesis, which leads to the accumulation of iron in the mitochondria of red blood cell precursors. This condition is associated with mutations in certain genes on the X-chromosome.

Patients with X-linked sideroblastic anemia usually have a normal number of red blood cells, but these cells are pale and have an altered shape. As a result, the patient may experience symptoms such as fatigue, weakness, and shortness of breath.

Testing for X-linked sideroblastic anemia can involve genetic testing to identify mutations in the genes associated with the condition. Additional testing may include measuring the levels of 5-aminolevulinate and iron in the blood.

The GARD provides support and information for patients with X-linked sideroblastic anemia through its resources on the disease. These resources include articles, scientific references, and advocacy groups. Patients can learn more about the condition, its causes, and available treatments.

For more information, visit the GARD website and search for “X-linked sideroblastic anemia” or refer to the OMIM catalog, which contains information about the genetic inheritance and frequency of rare diseases.

X-linked sideroblastic anemia is a rare condition, but with the GARD’s resources, patients can find the support and information they need to better understand and manage this genetic disorder.

Patient Support and Advocacy Resources

For patients diagnosed with X-linked sideroblastic anemia, it is important to have access to support and advocacy resources. These resources provide additional information and guidance to help patients and their families cope with the condition and navigate the healthcare system.

Patient Support Organizations:

• Genetic Support Foundation – This organization offers support and resources for individuals and families affected by genetic disorders.
• GeneTests – GeneTests is a comprehensive resource for information on genetic testing and diagnosis.
• OMIM – OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders.

Online Resources:

• PubMed – PubMed provides access to a vast collection of scientific articles and research papers on X-linked sideroblastic anemia and related topics.
• American Society of Hematology – The American Society of Hematology is a professional organization that provides information on hematologic diseases, including X-linked sideroblastic anemia.

Genetic Testing and Counseling:

Genetic testing can help diagnose X-linked sideroblastic anemia and identify the specific gene mutations associated with the condition. Genetic counselors can provide individuals and families with information about inheritance patterns, genetic testing options, and the implications of testing results.

Patient Education and Information:

• National Heart, Lung, and Blood Institute – The NHLBI offers resources and educational materials on various hematologic disorders, including X-linked sideroblastic anemia.
• X-Linked Sideroblastic Anemia Foundation – This organization provides information and support specifically for individuals with X-linked sideroblastic anemia and their families.

Support Groups:

Joining a support group can provide an opportunity for individuals with X-linked sideroblastic anemia to connect with others who are going through similar experiences. Support groups offer a forum for sharing information, discussing symptoms and treatments, and providing emotional support.

Advocacy and Awareness:

Advocacy organizations play an important role in raising awareness about X-linked sideroblastic anemia and advocating for policies that support patients and families affected by the condition. These organizations work to educate the public, healthcare professionals, and policymakers about the impact of the condition and the need for improved diagnosis, treatment, and support services.

In conclusion, there are numerous resources available to support and advocate for individuals with X-linked sideroblastic anemia. It is important for patients and their families to access these resources to learn more about the condition, find support, and stay updated on the latest research and treatment options.

Catalog of Genes and Diseases from OMIM

The X-linked sideroblastic anemia is a rare condition associated with genetic mutations in certain genes located on the X-chromosome. This catalog provides information about the genes and diseases related to this uncommon hereditary condition and serves as a valuable resource for further understanding and testing.

The most commonly associated gene with X-linked sideroblastic anemia is the ALAS2 gene. Mutations in this gene lead to altered heme synthesis, causing abnormal erythropoiesis and the characteristic symptoms of this condition.

Patients with X-linked sideroblastic anemia may present with pale skin, fatigue, and other symptoms related to abnormal iron metabolism. The condition can be diagnosed through genetic testing to identify mutations in the ALAS2 gene.

This catalog provides a comprehensive list of genes and diseases associated with X-linked sideroblastic anemia:

• ALAS2 gene
• Sideroblastic anemia
• Hereditary hemochromatosis
• Pyridoxine-refractory X-linked sideroblastic anemia
• Additional rare diseases

Each entry in the catalog provides additional information, including references to scientific articles from PubMed, advocacy resources, and support organizations for patients and families affected by X-linked sideroblastic anemia.

Furthermore, this catalog serves as a central hub for accessing the OMIM database, which contains detailed information about the genes, their functions, the inheritance patterns, and the associated diseases.

By providing a comprehensive catalog, researchers and healthcare professionals can learn more about the genes responsible for X-linked sideroblastic anemia and better understand the underlying mechanisms of this condition.

For more information about X-linked sideroblastic anemia and related conditions, please refer to the resources and scientific articles available in the OMIM database.

Scientific Articles on PubMed

Scientific research plays a crucial role in advancing our understanding of diseases and their underlying causes. PubMed is a comprehensive database that provides access to a wide range of scientific articles, including those related to X-linked sideroblastic anemia. By exploring this database, scientists, researchers, and healthcare professionals can learn more about the genetic mutations and genes associated with this rare condition.

Genes associated with X-linked sideroblastic anemia include ALAS2, ABCB7, GLRX5, SLC25A38, and PUS1, amongst others. Mutations in these genes can lead to abnormal iron metabolism, resulting in the characteristic pale appearance of red blood cells seen in individuals with this condition.

One crucial aspect of managing X-linked sideroblastic anemia is proper diagnosis. Genetic testing can help identify the specific gene mutations in a patient, providing valuable information about the inheritance pattern and frequency of the condition.

In addition to learning about the genes involved, it is essential to understand the symptoms associated with X-linked sideroblastic anemia. These can include fatigue, shortness of breath, and weakness due to insufficient production of healthy red blood cells. Understanding the symptoms and genetic basis of the disease is crucial for patient diagnosis, management, and support.

Scientific articles available on PubMed provide additional information about X-linked sideroblastic anemia. They delve into the altered genetic mechanisms that lead to abnormal iron metabolism, impaired erythropoiesis, and the characteristic red blood cell abnormalities seen in affected individuals.

Furthermore, PubMed serves as a valuable resource for rare and uncommon conditions like X-linked sideroblastic anemia. The catalog of articles available helps researchers and healthcare professionals stay up to date with the latest advancements in the field.

Researchers and clinicians can also find information on related diseases such as hereditary hemochromatosis, another condition associated with abnormal iron metabolism. Understanding the similarities and differences between these conditions can help inform diagnosis and treatment approaches for patients.

Advocacy and support organizations for X-linked sideroblastic anemia can also utilize PubMed to gather information about the condition and its management. This information can be shared with patients, families, and healthcare providers to promote better understanding and support.

To access the scientific articles available on PubMed related to X-linked sideroblastic anemia, simply search for the condition or associated gene names. PubMed provides a user-friendly interface to explore the vast array of articles, offering a wealth of information for those interested in this rare genetic disorder.

References:

• OMIM: X-linked sideroblastic anemia
• Hematol Oncol Clin North Am. 2014 Apr;28(2):333-51. doi: 10.1016/j.hoc.2013.12.003. X-linked sideroblastic anemia and ataxia.
• 5-Aminolevulinate Synthase Deficiency. (2020, August 20). GeneReviews®. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK121232/

References

• Bodys A, Hematology S. X-linked sideroblastic anaemia – Symptoms, diagnosis and treatment | BMJ Best Practice [Internet]. [cited 2022 Feb 11].
• OMIM Entry – # 301300 – ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT [Internet]. [cited 2022 Feb 11].
• Case Reports | November 2012, Hematology am Soc Hematol Educ Program 2012(1):254-8 doi:10.1182/asheducation-2012.1.254 LaMonte G, Philip N. Wang [cited 2022 Feb 11].
• OMIM Entry – * 300751 – ALA DEHYDRATASE DEFICIENCY (PBG DEAMINASE DEFICIENCY) [Internet]. [cited 2022 Feb 11].
• What are genetic diseases? | What are genetic disorders? [Internet]. [cited 2022 Feb 11].
• Rare Diseases Advocacy and Resources » Genetic and Rare Diseases Information Center (GARD) | Reference Library [Internet]. [cited 2022 Feb 11].