Disease at a Glance

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 genetic changes in the gene that tells our bodies how to make hemoglobin. These genetic changes 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.
Estimated Number of People with this Disease

This section is currently in development.

What Information Does GARD Have For This Disease?

Many rare diseases have limited information. Currently GARD is able to provide the following information for this disease:

*Data may be currently unavailable to GARD at this time.
When do symptoms of this disease begin?
The most common ages for symptoms of a disease to begin is called age of onset. Age of onset can vary for different diseases and may be used by a doctor to determine the diagnosis. For some diseases, symptoms may begin in a single age range or several age ranges. For other diseases, symptoms may begin any time during a person's life.
Prenatal Selected
Before Birth
Newborn Selected
Birth-4 weeks
Infant Selected
1-23 months
Child Selected
2-11 years
Adolescent Selected
12-18 years
Adult Selected
19-65 years
Older Adult Selected
65+ years
The common ages for symptoms to begin in this disease are shown above by the colored icon(s).

Symptoms

This section is currently in development. We recommend speaking with a doctor to learn more about this disease. 

Causes

Genetic Disease

Hemoglobin SC disease is a genetic disease, which means that it is caused by one or more genes not working correctly.

Disease causing variants in the following gene(s) are known to cause this disease: HBB

Questions:

Inheritance

All individuals inherit two copies of most genes. The number of copies of a gene that need to have a disease-causing variant affects the way a disease is inherited. This disease is inherited in the following pattern(s):

Questions:

Next Steps

Talking with the Medical Team

Good communication between the patient, family, and medical team can lead to an accurate diagnosis. In addition, health care decisions can be made together which improves the patient’s well-being and quality of life.

Describing Symptoms

Describe details about the symptoms. Because there may be many different causes for a single symptom, it is best not to make a conclusion about the diagnosis. The detailed descriptions help the medical provider determine the correct diagnosis.

To help describe a symptom:

  • Use a smartphone or a notebook to record each symptom before the appointment
  • Describe each symptom by answering the following questions:
    • When did the symptom start?
    • How often does it happen?
    • Does anything make it better or worse?
  • Tell the medical team whether any symptoms affect daily activities

Preparing for the First Visit

Working with a medical team to find a diagnosis can be a long process that will require more than one appointment. Make better health decisions by being prepared for the first visit with each member of the medical team.

    Make informed decisions about health care: 
    • Prepare a list of questions and concerns before the appointment
    • List the most important questions first, not all questions may be answered in the first visit
    • Ask questions about symptoms, possible diagnoses, tests, and treatment options
    For future appointments:
    • Discuss what was not addressed at the last visit
    • Discuss changes in the quality of life for the patient, family, and caregivers
    • Discuss health goals and other issues in the patient’s and family’s life that may affect the health care decisions
    Take notes during the appointments to help remember what was discussed.

    Last Updated: Nov. 8, 2021