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.
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.
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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.
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
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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