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Disease Profile
Hereditary spherocytosis
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000
Age of onset
All ages
ICD-10
D58.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Congenital spherocytic hemolytic anemia; Congenital spherocytosis; Spherocytic anemia
Categories
Blood Diseases; Congenital and Genetic Diseases
Summary
Hereditary spherocytosis is a condition characterized by
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Increased red |
0005502 | |
30%-79% of people have these symptoms | ||
Cholelithiasis |
Gallstones
|
0001081 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hyperbilirubinemia |
High blood bilirubin levels
|
0002904 |
Hypercoagulability | 0100724 | |
Hypofibrinogenemia | 0011900 | |
Increased mean corpuscular hemoglobin concentration | 0025548 | |
Yellow skin
Yellowing of the skin
[ more ] |
0000952 | |
Muscle weakness |
Muscular weakness
|
0001324 |
Pallor | 0000980 | |
Reticulocytosis |
Increased immature red blood cells
Increased number of immature red blood cells
[ more ] |
0001923 |
Spherocytosis | 0004444 | |
Splenomegaly |
Increased spleen size
|
0001744 |
Spontaneous hemolytic crises | 0005525 | |
5%-29% of people have these symptoms | ||
Abdominal pain |
Pain in stomach
Stomach pain
[ more ] |
0002027 |
0001251 | ||
Chills | 0025143 | |
Extramedullary hematopoiesis | 0001978 | |
Fever | 0001945 | |
Maculopapular exanthema | 0040186 | |
Myalgia |
Muscle ache
Muscle pain
[ more ] |
0003326 |
Restrictive |
0001723 | |
1%-4% of people have these symptoms | ||
Abdominal distention |
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating
[ more ] |
0003270 |
Gout | 0001997 | |
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] |
0001510 |
Skin ulcer |
Open skin sore
|
0200042 |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
0000007 | ||
0001878 |
Cause
The gene mutations that cause hereditary spherocytosis cause red blood cells to have an abnormal, spherical shape with decreased flexibility. The misshapen red blood cells are called spherocytes. The spherocytes are taken out of circulation and sent to the spleen to be destroyed (hemolysis). This results in a shortage of red blood cells in the blood, and too many in the spleen.[1]
About half of all cases of hereditary spherocytosis are due to mutations in the ANK1 gene. Other genes associated with the condition include the EPB42, SLC4A1, SPTA1, and SPTB genes.[1]
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
Regular monitoring for anemia and gallstones is advised. Removal of the spleen (splenectomy) is usually only performed in severe HS or in moderate to severe cases with significant anemia and gallstone complications. Splenectomy is not recommended in cases of mild HS except in specific cases. The majority of medical researchers no longer recommend that the spleen be removed during gallbladder removal (cholecystectomy), unless there are other reasons to do so. In some cases only removing of part of the spleen is advised. Expert evaluation is recommended in order to avoid unnecessary spleen removal.[4][5][6]
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnoses include hereditary elliptocytosis, hereditary stomatocytosis, Southeast Asian ovalocytosis, glucose-6-phosphate dehydrogenase deficiency, pyruvate kinase deficiency, autoimmune hemolytic anemia, and alpha-thalassemia (see these terms).
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
European Network for Rare and Congenital Anaemias (ENERCA)
University of Barcelona
Red Cell Pathology Unit
C/Villarroel, 170 08036
Barcelona
España
Telephone: (34) 93 451 5950
Fax: (34) 93 227 1764
E-mail: [email protected]
Website: https://www.enerca.org
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- MedlinePlus Genetics contains information on Hereditary spherocytosis. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Hereditary spherocytosis. Click on the link to view a sample search on this topic.
References
- Hereditary spherocytosis. Genetics Home Reference. September, 2013; https://ghr.nlm.nih.gov/condition/hereditary-spherocytosis.
- Hemolytic anemia. MedlinePlus. January 19, 2018; https://medlineplus.gov/ency/article/000571.htm.
- Hereditary Spherocytosis. Seattle Children's. https://www.seattlechildrens.org/medical-conditions/heart-blood-conditions/hereditary-spherocytosis/. Accessed 6/19/2018.
- Gus Gonzalez. Hereditary Spherocytosis. Medscape Reference. October 13, 2015; https://emedicine.medscape.com/article/206107-overview.
- Bolton-Maggs PH, Langer JC, Iolascon A, Tittensor P, King MJ and General Haematology Task Force of the British Committee for Standards in Haematology. Guidelines for the diagnosis and management of hereditary spherocytosis. British Journal of Haematology. January 2012; 156(1):37-49. https://www.ncbi.nlm.nih.gov/pubmed/22055020.
- Mentzer WC. Hereditary spherocytosis: Clinical features, diagnosis, and treatment. UpToDate. May 3 2016; https://www.uptodate.com/contents/hereditary-spherocytosis-clinical-features-diagnosis-and-treatment.
- Congenital spherocytic anemia. MedlinePlus. February 24, 2014; https://www.nlm.nih.gov/medlineplus/ency/article/000530.htm.
- What is hereditary spherocytosis?. Children's Minnesota. https://www.childrensmn.org/services/care-specialties-departments/cancer-blood-disorders/conditions-and-services/blood-disorders-services/hemoglobinopathy-sickle-cell/hs/. Accessed 4/24/2016.
- Mark S Pasternack. Patient information: Preventing severe infection after splenectomy (Beyond the Basics). UpToDate. March, 2016; https://www.uptodate.com/contents/preventing-severe-infection-after-splenectomy-beyond-the-basics.
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