National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Hemoglobin SC disease


Other Names:
Sickle cell - hemoglobin C disease; HbSC disease; Sickle cell-hemoglobin C disease syndrome
Categories:
This disease is grouped under:
Hemoglobinopathy; Sickle cell disease associated with an other hemoglobin anomaly
Hemoglobin SC disease, is a type of sickle cell disease, which means it affects the shape of the red blood cells. Red blood cells contain a protein called hemoglobin, which is responsible for carrying blood throughout the body. People with hemoglobin SC disease have red blood cells that are differently shaped and therefore do not carry oxygen as effectively. Symptoms of hemoglobin SC disease include anemia and episodes of fatigue and extreme pain (vaso-occlusive crisis). The severity of the symptoms can vary from person to person.

Hemoglobin SC disease is caused by mutations in the gene that tells our bodies how to make hemoglobin. These mutations cause changes in the shape of the red blood cells. People affected by hemoglobin SC disease need to be especially careful to avoid infection and should be checked regularly by doctors to make sure all of the organs in the body are functioning properly. In times when the anemia becomes severe, a person affected by hemoglobin SC disease may require a blood transfusion. A bone marrow transplant may also be recommended depending on the severity of the symptoms.[1][2] 
Last updated: 11/11/2016

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.
  • 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.
  • 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 long-term outlook for people affected by hemoglobin SC disease can vary depending on the severity of symptoms. Some people are minimally affected by the condition while others have more serious complications of the disease and may have require blood transfusions when the anemia becomes severe. One possible complication of hemoglobin SC disease occurs when the eyes are not getting enough oxygen due to the change in the shape of the red blood cells. More blood vessels form around the eye to try to make up for this change. This is called proliferative sickle cell retinopathy. Without close monitoring by an ophthalmologist, this condition can lead to vision loss.

Another possible complication of hemoglobin SC disease can result from the bone, specifically the bones in the hip, not getting enough oxygen from the red blood cells. This is most common during or after pregnancy in women affected by hemoglobin SC disease. Treatment for this complication may require surgery or physical therapy.[3][4] 
Last updated: 11/11/2016

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 related to Hemoglobin SC disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

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

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.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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.

  1. AE Lichtin. Hemoglobin S-C Disease. Merck Manuals; October 2013; http://www.merckmanuals.com/professional/hematology-and-oncology/anemias-caused-by-hemolysis/hemoglobin-s-c-disease.
  2. What is Sickle Cell Disease?. National Heart, Lung, and Blood Institute; August 2, 2016; https://www.nhlbi.nih.gov/health/health-topics/topics/sca.
  3. Mitton, BA, Cooney, TM, Talavera, F, Sacher, RA, and EC Besa.. Hemoglobin C Disease. Medscape; October 7, 2014; http://emedicine.medscape.com/article/200853-overview.
  4. Bender, MA, and GD Seibel. Sickle Cell Disease. GeneReviews; October 23, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1377/.