Rare Pulmonology News
Advertisement
Disease Profile
Sickle cell anemia
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
D57.0 D57.1 D57.2
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)
HbS disease; Hemoglobin S Disease; Sickling disorder due to hemoglobin S
Categories
Blood Diseases; Congenital and Genetic Diseases; Endocrine Diseases;
Summary
Sickle
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
|
---|---|---|
100% of people have these symptoms | ||
Chronic |
0004870 | |
80%-99% of people have these symptoms | ||
Recurrent infections |
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ] |
0002719 |
30%-79% of people have these symptoms | ||
Abnormality of the spleen | 0001743 | |
Avascular necrosis |
Death of bone due to decreased blood supply
|
0010885 |
Chest pain | 0100749 | |
Iron deficiency anemia | 0001891 | |
Leukocytosis |
Elevated white blood count
High white blood count
Increased blood leukocyte number
[ more ] |
0001974 |
Osteomyelitis |
Bone infection
|
0002754 |
0000939 | ||
Pigment gallstones | 0011981 | |
Reticulocytosis |
Increased immature red blood cells
Increased number of immature red blood cells
[ more ] |
0001923 |
Thrombocytosis |
Increased number of platelets in blood
|
0001894 |
5%-29% of people have these symptoms | ||
Abnormality of the nervous system |
Neurologic abnormalities
Neurological abnormality
[ more ] |
0000707 |
Cholestasis |
Slowed or blocked flow of bile from liver
|
0001396 |
Elevated serum creatinine |
Elevated creatinine
High blood creatinine level
Increased creatinine
Increased serum creatinine
[ more ] |
0003259 |
Hypoxemia |
Low blood oxygen level
|
0012418 |
Increased lactate dehydrogenase level | 0025435 | |
Persistence of hemoglobin F | 0011904 | |
Unconjugated hyperbilirubinemia | 0008282 | |
1%-4% of people have these symptoms | ||
Increased mean corpuscular volume | 0005518 | |
Microcytic anemia | 0001935 | |
Percent of people who have these symptoms is not available through HPO | ||
Abdominal pain |
Pain in stomach
Stomach pain
[ more ] |
0002027 |
0000007 | ||
Cardiomegaly |
Enlarged heart
Increased heart size
[ more ] |
0001640 |
Cholelithiasis |
Gallstones
|
0001081 |
Hematuria |
Blood in urine
|
0000790 |
Hemolytic anemia | 0001878 | |
Hepatomegaly |
Enlarged liver
|
0002240 |
0000822 | ||
Increased red cell sickling tendency | 0008346 | |
Yellow skin
Yellowing of the skin
[ more ] |
0000952 | |
Priapism | 0200023 | |
Recurrent bacterial infections |
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections
[ more ] |
0002718 |
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ] |
0000083 |
Retinopathy |
Noninflammatory retina disease
|
0000488 |
Splenomegaly |
Increased spleen size
|
0001744 |
Stroke | 0001297 |
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.
Newborn Screening
- An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive
newborn screening result. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics. - An Algorithm flowchart is available for this condition for determining the final diagnosis in an infant with a positive newborn
screening result. Algorithms are developed by experts in collaboration with the American College of Medical Genetics. - Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
- National Newborn Screening and Global Resource Center (NNSGRC) provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.
- The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.
Treatment
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.
Management Guidelines
- Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Hydroxyurea(Brand name: Droxia) Manufactured by Bristol-Myers Squibb Co
FDA-approved indication: To reduce the frequency of painful crises and to reduce the need for blood transfusions in adult patients with sicklecell anemia with recurrent moderate to severe painful crises (generally at least 3 during the preceding 12 months).
National Library of Medicine Drug Information Portal
Medline Plus Health Information - L-glutamine oral powder (prescription grade)(Brand name: Endari) Manufactured by Emmaus Medical, Inc.
FDA-approved indication: To reduce the acute complications of sickle cell disease in adult and pediatric patients 5 years of age and older.
National Library of Medicine Drug Information Portal - Hydroxyurea(Brand name: Siklos) Manufactured by Addmedica Laboratories
FDA-approved indication: To reduce the frequency of painful crises and to reduce the need for blood transfusions in pediatric patients, 2 years of age and older, with sickle cell anemia with recurrent moderate to severe painful crisis.
National Library of Medicine Drug Information Portal
Medline Plus Health Information
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 other hereditary hemolytic diseases.
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
-
American Sickle Cell Anemia Association
DD Building at the Cleveland Clinic,
Suite DD1-201
10900 Carnegie Avenue
Cleveland, OH 44106
Telephone: 216-229-8600
Fax: 216-229-4500
Website: https://www.ascaa.org -
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 -
Sickle Cell Consortium
525 Tribble Gap Road, Box 1195
Cumming, GA 30040
Telephone: 706-619-6029
Fax: 706-619-6029
E-mail: https://sicklecellconsortium.org/contact-us/
Website: https://sicklecellconsortium.org/ -
Sickle Cell Disease Association of America
3700 Koppers Street
Suite 570
Baltimore, MD 21227
Toll-free: 800-421-8453
Telephone: 410-528-1555
Fax: 410-528-1495
E-mail: [email protected]
Website: https://www.sicklecelldisease.org/ -
The Sickle Cell Information Center
PO Box 109
Grady Memorial Hospital
80 Jesse Hill Jr Drive SE
Atlanta, GA 30303
Telephone: 404-616-3572
Fax: 404-616-5998
E-mail: [email protected]
Website: https://www.scinfo.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.
- Genetics Home Reference (GHR) contains information on Sickle cell anemia. This website is maintained by the National Library of Medicine.
- The National Heart, Lung, and Blood Institute (NHLBI) has information on this topic. NHLBI is part of the National Institutes of Health and supports research, training, and education for the prevention and treatment of heart, lung, and blood diseases.
- The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
- 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.
- The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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 Sickle cell anemia. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Frenette PS, Atweh GF. Sickle cell disease: old discoveries, new concepts, and future promise. Journal of Clinical Investigation. 2007 Apr;117(4):850-8.
References
- Gersten T. Sickle cell anemia. MedlinePlus. February 1, 2016; https://medlineplus.gov/ency/article/000527.htm.
- Sickle cell disease. Genetics Home Reference. August 2012; https://ghr.nlm.nih.gov/condition/sickle-cell-disease.
- FDA approved L-glutamine powder for the treatment of sickle cell disease. U.S. Food and Drug Administration: Approved Drugs. July 7, 2017; https://www.fda.gov/Drugs/InformationOnDrugs/ApprovedDrugs/ucm566097.htm.
Rare Pulmonology News