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||
|100% of people have these symptoms|
|80%-99% of people have these symptoms|
Frequent, severe infections
Increased frequency of infection
Predisposition to infections
Susceptibility to infection[ more ]
|30%-79% of people have these symptoms|
|Abnormality of the spleen||0001743|
|Iron deficiency anemia||0001891|
Elevated white blood count
High white blood count
Increased blood leukocyte number[ more ]
|5%-29% of people have these symptoms|
|Abnormal lactate dehydrogenase activity||0045040|
|Abnormality of the nervous system||
Neurological abnormality[ more ]
|Abnormality of the vasculature||
Abnormality of blood vessels
Vascular abnormalities[ more ]
|Elevated serum creatinine||
High blood creatinine level
Increased serum creatinine[ more ]
Low blood oxygen level
|Persistence of hemoglobin F||0011904|
|1%-4% of people have these symptoms|
|Increased mean corpuscular volume||0005518|
|Percent of people who have these symptoms is not available through HPO|
Pain in stomach
Stomach pain[ more ]
Increased heart size[ more ]
Blood in urine
|Increased red cell sickling tendency||0008346|
Yellowing of the skin[ more ]
|Recurrent bacterial infections||
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections[ more ]
Renal failure in adulthood[ more ]
Noninflammatory retina disease
Increased spleen size
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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Learn more orphan products.
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.
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.
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.
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
National Sickle Cell Awareness Month
August 22, 2017
Gene Editing Corrects Sickle Cell Mutation
October 26, 2016
Sickle Cell Trait and Health Concerns in Army Soldiers
August 24, 2016
Working Group on Sickle Cell Disease: Inflammation, Thrombrosis and Vascular Injury Wednesday, October 28, 2009
Location: Bethesda, MD
Description: The goals of the working group were to identify research priorities for translational II research in sickle cell disease. The working group was designed to foster cross-disciplinary communication and to ensure that other disciplines and skill sets are included in sickle cell research. These priorities—the study designs, methods, disciplines, and skill sets—will be included in an RFA on this topic.
Contact: Dr. Harvey Luksenburg, NHLBI 301-451-6766
Co-funding Institute(s): National Heart, Lung, and Blood Institute
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
I heard it is possible to diagnose sickle cell disease during pregnancy. If true how soon in the pregnancy can this diagnosis be made? More importantly is there a way to treat the disease should it be diagnosed during pregnancy? See answer
My partner and I are both AS (sickle cell carriers) and we intend to get married. How can we avert giving birth to a SS child? How early can the amniocentesis test be conducted during pregnancy? With the IVF method can the genotype be detected before the woman gets pregnant? See answer
My partner and I both have sickle cell trait and are planning to have a baby. During the pregnancy, are there any tests that could tell us whether the baby will have sickle cell anemia? Is there a way to make sure that we do not have a child with the condition? See answer
Is it true that stem cell therapy is being used to treat sickle cell anemia? See answer