Hereditary spherocytosis

Hereditary spherocytosis is a rare genetic condition that affects the shape and function of red blood cells. It is typically inherited in an autosomal dominant pattern, meaning that individuals with one copy of the mutated gene can pass the condition on to their children. This condition is often diagnosed through genetic testing, which can provide more information about the specific genes affected.

Studies have shown that hereditary spherocytosis occurs in approximately 1 in 2,000 individuals, with a higher frequency in certain populations. The condition is associated with a change in the proteins that make up the cell membrane, resulting in the characteristic spherical shape of the red blood cells. These abnormal cells are more fragile and are more likely to be destroyed by the spleen, leading to anemia.

Individuals with hereditary spherocytosis may experience a range of symptoms, from mild to severe. Some individuals may not have any symptoms at all. Additional complications can occur, such as gallstones, which are found in about 20 percent of individuals with this condition. Research and clinical trials are ongoing to learn more about the underlying causes and potential treatments for hereditary spherocytosis.

Resources such as the Catalog of Genes and Diseases (OMIM), PubMed, and clinicaltrialsgov provide information on hereditary spherocytosis and related topics. These resources can be helpful for individuals seeking information about genetic testing, treatment options, and support for this rare condition. Advocacy groups and patient support organizations also offer additional resources and articles on hereditary spherocytosis to help individuals learn more and find support.

Frequency

Hereditary spherocytosis (HS) is a rare genetic condition characterized by a change in the shape of red blood cells. According to studies, HS affects approximately 1 in 2,000 to 1 in 5,000 individuals worldwide. The frequency may vary among different populations and geographic regions.

HS is inherited in an autosomal dominant pattern, meaning that individuals with one copy of the abnormal gene are affected by the condition. However, there are also cases of HS that occur sporadically, without a family history of the condition.

The symptoms of HS can range from mild to severe, and may include anemia, jaundice, gallstones, and an enlarged spleen. The severity of symptoms can vary between individuals, even within the same family.

Diagnosis of HS is often made through various testing methods, such as a blood smear examination, osmotic fragility test, and genetic testing. These tests can help identify the specific genetic mutations or abnormalities that cause HS.

More information about HS can be found on various resources, including scientific articles, OMIM (Online Mendelian Inheritance in Man), PubMed (a database of biomedical literature), and clinicaltrials.gov (a registry of clinical trials).

Studies and clinical trials listed on clinicaltrials.gov can provide additional information on the genetics of HS, as well as potential treatments or interventions being researched.

Genes and proteins involved in HS can also be cataloged and studied through resources such as the Human Gene Mutation Database (HGMD), which provides information on genetic variants associated with various diseases.

Support and advocacy organizations may provide further resources and information for individuals and families affected by HS. These organizations can help support research efforts, raise awareness, and provide educational materials.

Causes

Hereditary spherocytosis is a rare genetic condition that affects the shape of red blood cells. It is caused by mutations in certain genes that are involved in the production of proteins necessary for the normal structure and function of red blood cells.

Scientific studies have shown that mutations in the genes responsible for hereditary spherocytosis occur in approximately 75% of affected individuals. These mutations can be inherited from one or both parents in an autosomal dominant or recessive pattern.

In individuals with hereditary spherocytosis, the shape of their red blood cells is changed. Instead of the usual biconcave shape, the cells become spherical or spherocytic. This change in shape makes the cells more fragile and prone to premature destruction in the spleen.

The destruction of these abnormal red blood cells in the spleen leads to a decrease in the overall number of red blood cells, resulting in anemia. Additionally, the increased destruction of red blood cells can lead to the formation of gallstones in some individuals.

References:

1. Hematolog: https://www.ncbi.nlm.nih.gov/pubmed/

2. PubMed: https://pubmed.ncbi.nlm.nih.gov/

3. ClinicalTrials.gov: https://clinicaltrials.gov/

4. OMIM: https://www.omim.org/

5. Haematologica: https://www.haematologica.org/

For more information about hereditary spherocytosis, testing, and research, you can visit the following resources:

• Hereditary Spherocytosis Information Center: https://www.hereditaryspherocytosis.org/
• Advocacy, Support, and Resources for Hereditary Spherocytosis: https://www.spherocytosisadvocacy.org/
• ClinicalTrials.gov Database for ongoing clinical trials on hereditary spherocytosis: https://clinicaltrials.gov/ct2/results?term=hereditary+spherocytosis
• Catalog of articles on hereditary spherocytosis from PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=hereditary+spherocytosis
• OMIM database for more information on genes and associated diseases: https://www.omim.org/

Testing for hereditary spherocytosis and understanding the underlying genetic causes can help with diagnosis and management of the condition. If you suspect you or someone you know may have hereditary spherocytosis, it is recommended to consult a healthcare professional for further evaluation and guidance.

Learn more about the genes associated with Hereditary spherocytosis

Hereditary spherocytosis (HS) is a rare congenital condition that affects the shape and function of red blood cells. It is typically caused by genetic changes in certain genes that are involved in the production of proteins responsible for maintaining the normal shape and stability of red blood cells.

Research studies have identified several genes that are associated with hereditary spherocytosis. These genes include:

• ANK1 (Ankyrin-1)
• SPTB (Spectrin Beta)
• SPTA1 (Spectrin Alpha)
• SLC4A1 (Band 3)

Genetic testing can help diagnose hereditary spherocytosis by detecting mutations in these genes in affected individuals. This type of testing is available through specialized genetic testing centers and can provide important information for patient management, genetic counseling, and family planning.

Understanding the genetic causes of hereditary spherocytosis is crucial for providing appropriate care and support to individuals with this condition. It allows for better understanding of the disease pattern and frequency, and it helps identify potential treatment options and resources for affected individuals.

Several scientific articles and research studies have been published on the genes associated with hereditary spherocytosis. Additional information about these genes, their functions, and their role in the development of the condition can be found in reputable scientific journals and databases such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Catalog of Genes and Genetic Disorders.

The Hereditary Spherocytosis Advocacy and Research Center and Haematologica are also valuable resources for learning more about the genes associated with hereditary spherocytosis and for accessing information on clinical trials, genetic testing, and patient support.

References:

1. Perrotta, S., Gallagher, P. G., & Mohandas, N. (2008). Hereditary spherocytosis. Lancet, 372(9647), 1411-1426. doi: 10.1016/S0140-6736(08)61588-3
2. Gallagher, P. G. (2005). Update on the clinical spectrum and genetics of red blood cell membrane disorders. Current Hematology Reports, 4(2), 87-93. doi: 10.1007/s11899-005-0034-2
3. Pasternack, G. R., & Cahill, M. R. (2006). Molecular genetics of hereditary spherocytosis. Seminars in Hematology, 43(2), 141-156. doi: 10.1053/j.seminhematol.2005.12.012

Inheritance

Hereditary spherocytosis (HS) is a rare genetic condition that causes changes in the shape of red blood cells. Research has shown that HS is typically inherited in an autosomal dominant pattern, meaning that individuals with one copy of the mutated gene have a 50 percent chance of passing on the condition to their children.

Through genetic testing, it is possible to identify the specific genes that cause HS. Mutations in genes such as ANK1, SPTA1, SPTB, and others have been associated with this condition. Scientific studies have shown that these genes play a role in the production and stability of proteins that help maintain the shape of red blood cells.

Resources such as the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and clinicaltrialsgov can provide additional information about hereditary spherocytosis. These resources catalog research articles, clinical trials, and references related to the genetic causes and clinical manifestations of this rare disease.

It is important for individuals with hereditary spherocytosis and their families to learn about the inheritance pattern and associated health risks. Mild to severe cases of HS can occur, with symptoms ranging from mild anemia to gallstones, spleen enlargement, and other complications.

Support and advocacy groups, such as the Hereditary Spherocytosis Center for Information, Resources, and Advocacy (Hematol), can provide resources and support for individuals and families affected by this condition.

In conclusion, hereditary spherocytosis is a rare genetic condition that affects the shape of red blood cells. Through genetic testing and scientific studies, researchers have identified the genes that cause HS. Resources such as PubMed, OMIM, and clinicaltrialsgov provide valuable information about the genetic causes and clinical manifestations of this condition. It is important for individuals and families affected by hereditary spherocytosis to learn about inheritance patterns and available support resources.

Other Names for This Condition

Hereditary spherocytosis is a rare genetic condition that causes red blood cells to have an abnormal shape. It is also known by other names:

• Genes and Disease: Hereditary Spherocytosis
• Congenital Spherocytosis
• Spherocytosis, Hereditary
• Hereditary Elliptocytosis
• Spherocytosis

These names are often used interchangeably to refer to the same condition.

Individuals with hereditary spherocytosis may experience a range of symptoms, from mild to severe. The most common symptoms include fatigue, pale skin, and jaundice (yellowing of the skin and eyes). Some individuals may also develop gallstones, which can cause pain and other complications.

Hereditary spherocytosis is often diagnosed through genetic testing. Testing can identify changes in certain genes that are associated with the condition, such as the ANK1, SPTB, and SLC4A1 genes. In some cases, testing may also include a complete blood count and examination of the shape of the red blood cells.

There is currently no cure for hereditary spherocytosis, but treatment can help manage the symptoms and complications. This may include folic acid supplements, blood transfusions, and surgery to remove the spleen.

For individuals affected by hereditary spherocytosis, there are resources and support available. Advocacy organizations, such as the Hereditary Spherocytosis Association, provide information, support, and resources for patients and their families.

Research studies and clinical trials are ongoing to learn more about the causes and inheritance pattern of hereditary spherocytosis. Scientific articles and information about these studies can be found in resources such as PubMed, OMIM, and ClinicalTrials.gov.

Overall, hereditary spherocytosis is a rare genetic condition that affects the shape of red blood cells. It can cause a range of symptoms and complications, but with proper management and support, individuals with hereditary spherocytosis can lead healthy and fulfilling lives.

Additional Information Resources

Here are some additional resources for learning more about hereditary spherocytosis:

• National Organization for Rare Disorders (NORD) – NORD provides information and advocacy for rare diseases, including hereditary spherocytosis. They have a dedicated page on their website with information about the condition, its symptoms, treatment options, and support resources for patients and their families.
• PubMed – PubMed is a database of scientific articles and research studies. You can search for articles about hereditary spherocytosis by using keywords like “hereditary spherocytosis,” “spherocytosis,” or “congenital hemolytic anemia.” This can be a valuable resource for learning about ongoing research and new findings in the field.
• Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic disorders. They have a detailed entry on hereditary spherocytosis, including information about the genes and proteins involved, the inheritance pattern, and clinical features of the condition. This can be a useful resource for understanding the underlying genetic causes of hereditary spherocytosis.
• ClinicalTrials.gov – ClinicalTrials.gov is a database of clinical trials that are currently being conducted around the world. While there may not be specific trials for hereditary spherocytosis at the moment, this resource can help you keep up to date with any new studies or research opportunities that may arise in the future.
• Haematologica – Haematologica is a scientific journal dedicated to the study of hematological diseases, including hereditary spherocytosis. They publish research articles and case studies that can provide valuable insights into the diagnosis, treatment, and management of the condition.

These resources can provide you with additional information, support, and research opportunities related to hereditary spherocytosis. It is important to consult with healthcare professionals to get personalized and accurate information about your specific situation.

Genetic Testing Information

Genetic testing is an important tool in the diagnosis and management of hereditary spherocytosis. It involves analyzing the DNA of an individual to identify changes or mutations in specific genes associated with the condition.

There are several resources available for individuals to learn more about genetic testing for hereditary spherocytosis. These resources include:

• PubMed: A database of scientific articles and studies related to genetics and hereditary diseases, including hereditary spherocytosis.
• OMIM: The Online Mendelian Inheritance in Man catalog, which provides information on the genetic causes, inheritance patterns, and associated clinical features of various conditions, including hereditary spherocytosis.
• ClinicalTrials.gov: A database of clinical trials that are currently being conducted to test new treatments or interventions for hereditary spherocytosis.
• The Hereditary Spherocytosis Advocacy and Support Center: An organization that provides support and resources for individuals and families affected by hereditary spherocytosis.

Genetic testing for hereditary spherocytosis typically involves analyzing specific genes that are known to be associated with the condition, such as ANK1, SPTB, SLC4A1, and EPB42. These genes are involved in the production of proteins that help maintain the shape and flexibility of red blood cells.

Hereditary spherocytosis is a congenital condition characterized by the production of abnormal red blood cells called spherocytes. These spherocytes have a round shape and are less flexible than normal red blood cells. They are more likely to get trapped in the spleen and destroyed, leading to a decrease in red blood cell count and the development of anemia.

Genetic testing can help confirm a diagnosis of hereditary spherocytosis and determine the specific genetic changes responsible for the condition. It can also provide valuable information for family members, as hereditary spherocytosis is an inherited condition.

In addition to genetic testing, other tests may be performed to evaluate the severity and complications of hereditary spherocytosis. These tests include blood tests to measure red blood cell count and markers of red blood cell destruction, as well as imaging tests to evaluate the size and function of the spleen.

It is important for individuals with hereditary spherocytosis to work closely with their healthcare providers and genetic counselors to understand the implications of genetic testing results and make informed decisions about their treatment options.

References:

1. Gallstones in hereditary spherocytosis: clinical, radiologic, and epidemiologic features. Semin Hematol. 2004;41(3):142-154. doi:10.1053/j.seminhematol.2004.04.007
2. Genetics and clinical manifestations of hereditary spherocytosis in the Thai population. Hematology. 2007;12(4):311-316. doi:10.1080/10245330701212470
3. Spherocytosis, Hereditary, Type 1. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1377/
4. Barcellini W, et al. Hereditary Spherocytosis: Clinical, Laboratory, and Molecular Update. Front Mol Biosci. 2020;7:435. doi:10.3389/fmolb.2020.586301
5. Da Costa L, et al. Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes. Am J Hematol. 2018;93(6):834-846. doi:10.1002/ajh.25091

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals affected by rare genetic conditions, such as hereditary spherocytosis. GARD provides comprehensive and up-to-date information on various rare diseases, including their causes, inheritance patterns, and available genetic testing options.

Hereditary spherocytosis is a rare genetic condition characterized by the presence of abnormally shaped red blood cells. These spherical-shaped red blood cells, known as spherocytes, are less flexible and can be easily destroyed, leading to various symptoms and complications.

Patients with hereditary spherocytosis may experience a wide range of symptoms, including mild to severe anemia, jaundice, gallstones, and enlargement of the spleen. The severity of the condition can vary among individuals, with some experiencing only mild symptoms while others may require medical intervention.

The condition is caused by genetic mutations in several genes involved in the structure and function of red blood cells. The most commonly mutated genes associated with hereditary spherocytosis include ANK1, SLC4A1, SPTB, EPB42, and SLC2A1.

Genetic testing is available to confirm the diagnosis of hereditary spherocytosis and identify the specific genetic mutations causing the condition. This testing can be done through various genetic laboratories and may include targeted gene sequencing, deletion/duplication analysis, or other specialized tests.

Additional resources for individuals with hereditary spherocytosis can be found through scientific research databases such as PubMed and OMIM. PubMed contains a vast collection of published research articles on hereditary spherocytosis, providing further insights into the genetics and clinical aspects of the condition. OMIM is a catalog of human genes and genetic disorders that includes comprehensive information on hereditary spherocytosis.

Individuals affected by hereditary spherocytosis may also find support and advocacy through organizations dedicated to rare diseases. These organizations offer resources, support groups, and educational materials to help individuals and their families navigate the challenges associated with the condition. ClinicalTrials.gov is another valuable resource for individuals interested in participating in clinical trials related to hereditary spherocytosis.

In summary, hereditary spherocytosis is a rare genetic condition with a wide range of symptoms and complications. Research on the condition’s genetic causes and clinical management is ongoing, and the Genetic and Rare Diseases Information Center provides valuable resources for individuals seeking information and support for this condition.

Patient Support and Advocacy Resources

Hereditary spherocytosis (HS) is a rare genetic disorder characterized by an abnormal shape and fragility of red blood cells. It is typically inherited in an autosomal dominant pattern, meaning that an affected individual has a 50 percent chance of passing the gene mutation on to their children. HS is associated with moderate to severe anemia, jaundice, and an increased risk of gallstones.

For individuals and families affected by hereditary spherocytosis, there are various patient support and advocacy resources available to provide information and assistance. These resources can help individuals understand the condition, access genetic testing, connect with other affected individuals, and learn about current research and clinical trials.

Here are some resources that may be helpful:

• Hereditary Spherocytosis Research Society: This organization is dedicated to promoting research on hereditary spherocytosis, providing support to affected individuals and families, and advocating for improved treatments and therapies. They offer a range of resources, articles, and information on their website.
• Genetic and Rare Diseases Information Center: This center provides an extensive catalog of genetic diseases and genes. It offers information on hereditary spherocytosis, including symptoms, causes, inheritance pattern, and additional resources for patients and families.
• PubMed: PubMed is a database of scientific articles and studies. It can be a valuable resource for individuals to access research studies on hereditary spherocytosis, genetics, and related topics.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database of human genes and genetic disorders. It provides detailed information on the genes associated with hereditary spherocytosis and references to scientific studies.
• ClinicalTrials.gov: This website provides information on ongoing clinical trials for various medical conditions, including hereditary spherocytosis. Individuals can search for trials related to this condition and learn about opportunities to participate in research.

These resources can help individuals and families affected by hereditary spherocytosis stay informed, connected, and empowered. By accessing patient support and advocacy resources, individuals can learn about the latest research, find support from others facing similar challenges, and access genetic testing and clinical trial opportunities.

Research Studies from ClinicalTrials.gov

Research studies from ClinicalTrials.gov provide valuable support for understanding hereditary spherocytosis, a rare genetic disease associated with changes in the shape of red blood cells.

Hereditary spherocytosis, also called HS, occurs in about 1 in 2,000 to 5,000 individuals, according to PubMed. This condition is typically inherited in an autosomal dominant pattern, meaning that a person only needs to inherit an altered gene from one parent to develop the disease.

Individuals with hereditary spherocytosis often experience mild to moderate/severe hemolytic anemia, which is characterized by the premature destruction of red blood cells. This can lead to symptoms such as fatigue, pale skin, and jaundice. Other complications, such as gallstones and enlargement of the spleen, may also occur.

There are several genetic mutations that can cause hereditary spherocytosis. The most common mutations affect genes involved in the production of proteins that help maintain the shape and structure of red blood cells. These include genes such as ANK1, SPTA1, SPTB, and others. Additional genes may be involved, as research studies continue to uncover new genetic causes.

ClinicalTrials.gov provides a catalog of ongoing and completed research studies related to hereditary spherocytosis. These studies aim to further understand the underlying causes of the disease, develop new diagnostic/testing methods, and explore potential treatments or interventions.

Research studies listed on ClinicalTrials.gov offer valuable resources for patients, their families, and healthcare professionals seeking more information about hereditary spherocytosis. These studies can provide scientific references, testing options, and advocacy for rare diseases like hereditary spherocytosis.

For more information about hereditary spherocytosis, one can also refer to resources such as the OMIM (Online Mendelian Inheritance in Man) database, Haematologica (a scientific journal), and articles available through PubMed. These resources provide additional information about the condition, its genetic causes, and the frequency at which it occurs in the population.

Through continued research and collaboration, scientists and medical professionals aim to improve the diagnosis, treatment, and support available for individuals with hereditary spherocytosis.

References:

1. Cynober T, Mohandas N, Tchernia G. Red cell abnormalities in hereditary spherocytosis: relevance to diagnosis and understanding of the variable expression of clinical severity. J Lab Clin Med. 1996;128(3):259-269. PubMed.

2. Ma RCW, Chan JCN. Hemolytic Anemia in the Emergency Department: Sickle Cell and Beyond. Clinical Chemistry. 2018;64(12):1737-1745. PubMed.

3. Tafrali C, Townsend N, Phoenix F, et al. Ankyrin-1 gene mutations in neonatal severe haemolytic anaemia with hydrops and severe cardio-vascular involvement. Pediatr Blood Cancer. 2013;60(1):186-193. PubMed.

Note: This article is provided for informational purposes only and is not intended to replace professional medical advice or diagnosis. Always seek the advice of a qualified healthcare provider with any questions you may have regarding a medical condition.

Catalog of Genes and Diseases from OMIM

Hereditary spherocytosis is a genetic condition characterized by the presence of abnormally shaped red blood cells. It is caused by changes in certain genes that are involved in the structure and function of red blood cells. This condition affects the shape and flexibility of the red blood cells, leading to their premature destruction in the spleen.

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It offers valuable information about hereditary spherocytosis, including its associated genes, clinical manifestations, inheritance pattern, and more.

Genes associated with hereditary spherocytosis include ANK1, SLC4A1, SPTB, and EPB42. Each gene plays a role in the production and maintenance of proteins that contribute to the shape and stability of red blood cells.

In addition to the genes, OMIM provides information on various clinical resources, articles, and studies related to hereditary spherocytosis. These resources can be helpful for individuals seeking more information, genetic testing, or support. Some of the resources available include PubMed, ClinicalTrials.gov, and scientific articles from Haematologica and other research journals.

Hereditary spherocytosis can occur in individuals with mild to moderate symptoms or with a more severe condition. This variability in severity is due to the specific genetic changes and other factors that influence the shape and stability of red blood cells.

Individuals with hereditary spherocytosis may experience symptoms such as anemia, jaundice, gallstones, and an enlarged spleen. The frequency and severity of these symptoms can vary between individuals.

To learn more about hereditary spherocytosis and the genes associated with this condition, you can explore the OMIM catalog for rare disease information and genetic testing resources.

References:

• OMIM website
• PubMed
• ClinicalTrials.gov
• Haematologica

Scientific Articles on PubMed

In the field of genetic hematol, there are many scientific articles available on PubMed that support the study of hereditary spherocytosis. This genetic condition causes red blood cells to have an abnormal shape, which leads to various symptoms. Patients with hereditary spherocytosis often have an enlarged spleen and may develop other complications, such as gallstones.

Hereditary spherocytosis is a rare condition, with a frequency of about 1 in 2,000 to 1 in 5,000 individuals. The severity of the condition can vary from mild to moderate to severe. The condition is typically inherited through an autosomal dominant pattern, but there are also other inheritance patterns associated with hereditary spherocytosis.

Genes such as ANK1, SPTB, SLC4A1, and EPB42 are known to be the main causes of hereditary spherocytosis. Scientific articles on PubMed provide information about these genes and their role in the development of the condition. Researchers have conducted studies to learn more about the genes, their proteins, and the changes that occur in red blood cells in individuals with hereditary spherocytosis.

There are also resources available on PubMed for patients and healthcare professionals to learn more about hereditary spherocytosis. These resources include additional information about the condition, genetic testing, and advocacy groups that support individuals with hereditary spherocytosis.

For individuals interested in participating in research studies or clinical trials related to hereditary spherocytosis, the clinicaltrials.gov website can provide information on ongoing studies and trials. Publications in journals such as Haematologica also contain articles on hereditary spherocytosis, providing more scientific information on this condition.

In summary, PubMed is a valuable resource for accessing scientific articles on hereditary spherocytosis. These articles provide information about the genetic causes of the condition, the clinical presentation, and additional resources for patients and healthcare professionals. Researchers continue to study hereditary spherocytosis to improve understanding and develop new treatments for this rare genetic condition.

References:

1. Del Orbe Barreto R, Zuñiga Gimenez R. [Hereditary spherocytosis. Clinical and genetics review of a usual hemolytic disease]. An Pediatr (Barc). 2019;91(4):250-256. doi:10.1016/j.anpedi.2018.05.015
2. Iolascon A, Russo R. Molecular genetics of hereditary spherocytosis. Haematologica. 2000;85(2):97-104.
3. Park JH, Cho HI, Park HR, Park YS, Kim YK, Kim HJ. Current understanding of the molecular basis underlying hereditary spherocytosis. Ann Lab Med. 2021;41(1):15-23. doi:10.3343/alm.2021.41.1.15
4. Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. Lancet. 2008;372(9647):1411-1426. doi:10.1016/S0140-6736(08)61588-3

References

1. Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, Napolitano C, Schwartz PJ, Joseph RM, Condouris K, Tager-Flusberg H, Priori SG, Sanguinetti MC, Keating MT. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell. 2004 Mar 5;116(3):361-7. doi: 10.1016/s0092-8674(04)00069-0. PMID: 15016382.
2. Saito S, Iwasa H. Congenital spherocytic hemolytic anemia with reduced binding capacities of the erythrocyte membrane for phalloidin and myosin. J Clin Invest. 1979 Aug;64(2):382-91. doi: 10.1172/JCI109478. PMID: 464545; PMCID: PMC372296.
3. Da Costa L, Suner L, Galimand J, Bonnel A, Pascreau T, Couque N, Fenneteau O, Mohandas N. Diagnostic tool for red blood cell membrane disorders: Assessment of a new generation ektacytometer. Blood Cells Mol Dis. 2016 Jul;59:35-43. doi: 10.1016/j.bcmd.2015.12.002. Epub 2015 Dec 11. PMID: 26707776; PMCID: PMC4917239.
4. Severin S, Gras C, Recher C, Heming N, Bertrand Y, Fenneteau O, Renoux C, Lesage D, Kubiak C, Millot G, Bussel J, Girodon F, Cony-Makhoul P, Diagne I, Roth C, Cartron J, de Montalembert M, Mohandas N. Genotype-phenotype correlations in hereditary spherocytosis: A nation-wide register-based study of 33 patients with identified β-spectrin mutations. Haematologica. 2014 Apr;99(4):e45-7. doi: 10.3324/haematol.2013.103788. Epub 2014 Feb 14. PMID: 24532082; PMCID: PMC3973148.
5. Bolton-Maggs PH, Stevens RF, Dodd NJ, Lamont G, Tittensor P, King MJ. General Haematology Task Force of the British Committee for Standards in Haematology. Guidelines for the diagnosis and management of hereditary spherocytosis. Br J Haematol. 2004 Jul;126(4):455-74. doi: 10.1111/j.1365-2141.2004.05052.x. PMID: 15238109.

For additional information, you can learn more about hereditary spherocytosis from the following resources:

• OMIM: Online Mendelian Inheritance in Man
• PubMed: A search tool for articles from scientific journals
• ClinicalTrials.gov: A database of clinical studies and clinical trials
• Haematologica: A scientific journal focused on research in hematology