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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.
Source: GARD Last updated on 05-01-20
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.
Last updated on 05-01-20
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.
Last updated on 04-27-20
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