Hereditary spherocytosis

Genetic and Rare Diseases Information Center (GARD)

HS
Spherocytosis, severe atypical, due to suspected ankyrin defect

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Hereditary spherocytosis
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Hereditary spherocytosis is a type of hemolytic anemia. It is caused by a defective gene that results in sphere (ball) shaped red blood cells that are less resistant to stress and rupture easily. Symptoms may include pale skin, fatigue, anemia, jaundice, gallstones, and enlargement of the spleen. Depending on severity, treatment may involve folic acid replacement, red cell transfusions, splenectomy, and cholecystectomy.^[1]

References

Congenital spherocytic anemia. MedlinePlus. 2007 Available at: http://www.nlm.nih.gov/medlineplus/ency/article/000530.htm. Accessed May 2, 2008.

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Q&A	More Detailed Information	Support Groups	Clinical Trials & Research	NLM Gateway

Questions & Answers (Found:1 Question)

A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.

What causes hereditary spherocytosis? How can I learn about research on this topic? In particular I'm interested in learning more about the role of genetics and possible links to radiation or drug exposure. (Click here for answer)

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More Detailed Information (Found: 6 Resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates
- General
  - eMedicine provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free
    
    MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information.
    
    The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
    
    The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Hereditary spherocytosis. Click on the link to go to OMIM and review these resources.
    
    Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
    
    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.
Support Groups (Found: 7 Resources)
Groups providing a wide range of services, supportive resources, and information
- Umbrella Organizations
  - Genetic Alliance
    4301 Connecticut Avenue NW
    Suite 404
    Washington, DC 20008-2369
    Telephone: 202-966-5557
    Fax: 202-966-8553
    E-mail: info@geneticalliance.org
    Web site: http://www.geneticalliance.org
    
    National Organization for Rare Disorders (NORD)
    55 Kenosia Avenue
    PO Box 1968
    Danbury, CT 06813-1968
    Toll-free: 1-800-999-6673 (voicemail only)
    Telephone: 203-744-0100
    TTY: 203-797-9590
    Fax: 203-798-2291
    E-mail: orphan@rarediseases.org
    Web site: http://www.rarediseases.org/
- Disease-Specific Organizations
  - Hereditary Spherocytosis (HS) Support Group
    Phone: 201 487-6394
    E-mail: jsommers@bergen.edu
    
    Anemia Institute for Research and Education
    151 Bloor Street West, Suite 600
    Toronto, Ontario, M5S 1S4
    Phone: 416-969-7431
    E-mail: info@anemiainstitute.org
    Web site: http://www.anemiainstitute.org
    
    Iron Disorders Institute Inc.
    2722 Wade Hampton Blvd, Suite A
    Greenville, SC 29615
    Toll-free: 888-565-IRON (4766)
    Phone: 864-292-1175
    Fax: 864-292-1878
    Email: patientservices@irondisorders.org
    Web site: http://www.irondisorders.org/
- Live Chat
  - The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    
    RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
Clinical Trials & Research (Found: 1 Resource)
Resources where you may find research studies and clinical trials
- - The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Natural History of Sickle Cell Disease and Other Hemolytic Disorders which may be of interest to you. To find this trial, click on the link above.
NLM Gateway
A tool to search across multiple resources offered on the National Library of Medicine's Website
- - The NLM Gateway allows users to search across multiple resources offered on the National Library of Medicine's Web site. Some of these resources may be duplicated in the list of links above. Click on the link to go to the NLM Gateway, and search by condition name.

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