Sickle cell anemia

Title

Other Names:

HbS disease; Hemoglobin S Disease; Sickling disorder due to hemoglobin S

Categories:

Blood Diseases; Congenital and Genetic Diseases; Endocrine Diseases; Blood Diseases; Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases; Kidney and Urinary Diseases; Male Reproductive Diseases; Musculoskeletal Diseases; Newborn Screening See More

Summary Summary

Sickle cell anemia is a disease in which the body produces abnormally shaped red blood cells that have a crescent or sickle shape. These cells do not last as long as normal, round, red blood cells, which leads to anemia (low number of red blood cells). The sickle cells also get stuck in blood vessels, blocking blood flow.^[1] Signs and symptoms of sickle cell disease usually begin in early childhood and may include anemia, repeated infections, and periodic episodes of pain (called crises). This condition is caused by mutations in the HBB gene and is inherited in an autosomal recessive pattern.^[2] Treatment typically focuses on controlling symptoms and may include pain medicines during crises; hydroxyurea to reduce the number of pain episodes; antibiotics and vaccines to prevent bacterial infections; and blood transfusions.^[1]

Last updated: 12/14/2015

Symptoms Symptoms

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.

Signs and Symptoms	Approximate number of patients (when available)
Autosomal recessive inheritance	-
Cardiomegaly	-
Cholelithiasis	-
Hematuria	-
Hemolytic anemia	-
Hepatomegaly	-
Increased red cell sickling tendency	-
Jaundice	-
Priapism	-
Retinopathy	-
Splenomegaly	-

Last updated: 9/1/2016

Inheritance Inheritance

Sickle cell anemia is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.^[2] In regards to sickle cell anemia, a person who carries one copy of the mutated gene is said to be a carrier for the condition, or to have sickle cell trait. When two people who are carriers of an autosomal recessive condition have a child, there is a 25% (1 in 4) chance that the child will have the condition, a 50% (1 in 2) chance that the child will be a carrier like each of the parents, and a 25% (1 in 4) chance that the child will not have the condition and not be a carrier.

Last updated: 12/14/2015

Diagnosis 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 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

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.
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 Pharmaceutical Research Institute
FDA-approved indication: To reduce the frequency of painful crises and to reduce the need for blood transfusions in adult patients with sickle cell 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

Research Research

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.

Clinical Research Resources

ClinicalTrials.gov lists trials that are studying or have studied Sickle cell anemia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Organizations Organizations

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.

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: http://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: enerca@enerca.org
Website: http://www.enerca.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: scdaa@sicklecelldisease.org
Website: http://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: aplatt@emory.edu
Website: http://www.scinfo.org

Living With Living With

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.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Education Resources

The Genetics Education Materials for School Success (GEMSS) aims to assure that all children with genetic health conditions succeed in school-life. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions.

Learn More 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

Genetics Home Reference (GHR) contains information on Sickle cell anemia. This website is maintained by the National Library of Medicine.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
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

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.

News & Events News & Events

News

Sickle Cell Trait and Health Concerns in Army Soldiers
August 24, 2016
Young Investigator Initiative Career Development and Grant Mentoring Program
June 21, 2016

NCATS Co-Sponsored Conferences

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
- Agenda ( - 61KB)
- Participants ( - 88KB)
- Summary ( - 24KB)

Related Diseases Related Diseases

The following diseases are related to Sickle cell anemia. If you have a question about any of these diseases, you can contact GARD.

Hemoglobinopathy

GARD Answers GARD Answers

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