Red blood cells play an important role, bringing oxygen and nutrients to your cells and organs. They have a protein called hemoglobin, which brings oxygen from your lungs to the rest of your body and carries carbon dioxide out when you exhale. Healthy red blood cells are round and designed to travel easily through your blood vessels.
If you have hemoglobin SC disease, a type of sickle cell disease, it means your red blood cells are a different shape and can't carry oxygen efficiently. They form a C-shape, similar to a farm tool called a "sickle." They're hard and sticky, and often get stuck when traveling through small blood vessels, clogging your blood flow. Sickle cells also die quickly, leaving a constant shortage of red blood cells and causing symptoms like severe pain, strokes, and infections.
What Are the Causes of Sickle Cell Disease?
Hemoglobin SC disease, or HbSC disease, occurs when the gene that tells our body how to make hemoglobin mutates. These mutations change the shape of red blood cells. It's a genetic condition you inherit from your parents. Typically, each parent is a carrier, and the child receives two sickle cell genes.
What Are the Symptoms of Hemoglobin SC Disease?
Symptoms of sickle cell hemoglobin c disease may start to appear when a baby is around 5 months old. They can include:
Anemia. Sickle cells can die between 10-20 days, leaving a shortage of red blood cells, a condition that's called anemia. Healthy red blood cells typically live 120 days. When you don't have enough red blood cells, your body struggles to get oxygen, causing fatigue. In severe cases, blood transfusions are necessary to combat anemia.
Constant pain. C-shaped cells block blood flow in blood vessels leading to your heart, digestive system, joints, and bones. This results in pain that spreads throughout your entire body, and your body may hurt for hours or weeks at a time. These episodes are called pain crises. Some children and adults with hemoglobin SC disease have chronic pain resulting from ulcers and bone and joint damage.
Swollen feet and hands. The lack of blood flow in the body can cause swelling in your hands and feet. This is a symptom called "hand-foot syndrome."
Infections. Sickle cells can damage the spleen, which could leave you more open to infections. Toddlers and children with sickle cell disease are often prescribed antibiotics to prevent dangerous infections.
Eye and vision problems. C-shaped red blood cells easily block small blood vessels. This can damage your retina, the part of the eye that creates the images you see.
Late or delayed puberty. Your body needs oxygen and nutrients from red blood cells. If you don't have enough, it can prevent normal growth or slow puberty.
People with hemoglobin SC disease are often anemic and experience extreme fatigue and pain. However, the severity of symptoms varies from person to person.
Not everyone with hemoglobin SC disease has severe symptoms. Some people experience only minimal health issues.
What Is The Treatment for Hemoglobin SC Disease?
The only potential cure for hemoglobin SCD is a stem cell or bone marrow transplant. Bone marrow is a fatty, soft tissue in the center of your bones that produces blood cells. A bone marrow transplant takes healthy cells from a donor's marrow and transfers them into another person.
However, these transplants can be risky. The donor and recipient must be a close match for the transplants to work, usually siblings or members of the same family. Even then, the procedure can cause serious side effects and death. Doctors typically reserve these transplants for more severe cases.
Other potential treatments include a bone marrow transplant (BMT) in which bone marrow is replaced with stem cells from a donor without sickle cell disease.
Also, there are two types of gene therapy available for some people with sickle cell: exagamglogene autotemcel (Casgevy) and lovotibeglogene autotemcel (Lyfgenia). Casgevy edits a gene in your own cells so you’ll make more normal hemoglobin. Lyfgenia gives you a working hemoglobin gene.
Are There Other Complications of Hemoglobin SC Disease?
Hemoglobin SC disease can lead to other serious health problems, including:
- Acute chest syndrome
- Pulmonary hypertension
- Blindness
- Organ damage
- Leg ulcers
- Stroke
- Deep Vein Thrombosis (DVT)
- Pregnancy complications
Treatments for these conditions vary and may require surgery, physical therapy, and oral medications.