The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
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.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
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I was 37 when I was diagnosed. I had my spleen and gallbladder removed. The last two years I find myself getting really tired and fall asleep for a few minutes to feel recharged. Will this continue to get worse? My concern is with driving and at work. I also would like any information on the long term effects of hereditary spherocytosis. Is there any increased risk of strokes or heart attacks? And is there any effect on life expectancy? Any information on this would be greatly appreciated. I cannot find much about it anywhere. See answer
Does hereditary spherocytosis (and splenectomy) have any effect on pregnancy? See answer
My son has hereditary spherocytosis and I am trying to learn more about it. Are their any restrictions that I should be aware of, such as dietary or physical activities? See answer
I have hereditary spherocytosis and I have a son that has it too. He had a splenectomy when he was almost 3 and he is 7 now. He is on penicillin every day. I have been told by his doctor (not a hematologist) that he doesn't have to be on the medicine anymore. Is that correct? Also, is there a chance my other unaffected kids can give this disorder to their kids? See answer
Is there research that demonstrates the long term effects of removal of spleen and gallbladder in children with hereditary spherocytosis? How do these procedures affect their future health? What are the chances of this disease being passed to my child's future children? See answer
Can Soliris be used to cure hereditary spherocytosis? See 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. See answer