Rare Endocrinology News

Disease Profile

Hemoglobin SC disease

Prevalence
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.

Unknown

Age of onset

All ages

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ICD-10

D57.2

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

Sickle cell hemoglobin C disease; HbSC disease; Sickle cell-hemoglobin C disease syndrome

Categories

Blood Diseases; Congenital and Genetic Diseases; Newborn Screening

Summary

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] 

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.
  • 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.

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

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.

References

  1. AE Lichtin. Hemoglobin S-C Disease. Merck Manuals; October 2013; https://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; https://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/.