Sickle Cell Disease (SDC) is as a group of inherited red blood cell disorders. A protein known as hemoglobin that is responsible for carrying oxygen is found in red blood cells. Healthy red blood cells are usually round in shape and they move through small blood vessels to deliver oxygen to every region of the body.
However, for individuals with SCD, the hemoglobin is abnormal, which causes the red blood cells to become hard and sticky, looking like a C-shaped farm tool known as a “sickle.” This type of cell dies early resulting in a constant shortage of red blood cells. Besides, when they move through small blood vessels, they may get stuck and clog the blood flow.
There is a variety of SCD but a specific type of SCD a person has depends on the genes they inherited from a parent. Individuals who have SCD inherit genes that contain codes for abnormal hemoglobin.
The most common types of Sickle Cell Disease include the following:
HbSS
Individuals with this kind of SCD often inherit two genes, one from each parent, that code for hemoglobin “S.” Hemoglobin S is described as an abnormal hemoglobin that results in the red cell becoming rigid, and sickle-shaped (sickle cell anemia).
HbSC
Unlike HbSS, individuals with this form of SCD inherit a hemoglobin “S” gene from one parent and a gene of a different type of abnormal hemoglobin known as “C” from the other parent.
Hbs beta Thalassemia
Individuals suffering from this type of SCD often inherit a hemoglobin “S” from one parent and a gene for beta thalassemia which is another type of hemoglobin abnormality from the other parent.
HbSD, HbSE, and HbSO
People with these types of SCD inherit one “S” gene for hemoglobin plus one “D”, “E”, or “O” gene that codes for an additional defective kind of hemoglobin. The severity of these rare types of SCD varies.
HbAS
Individuals with sickle cell trait (SCT) often inherit a hemoglobin “S” gene from one parent and a normal gene from the other parent. SCT patients typically have signs of the disease. However, a person with SCT may, on rare occasions, experience health issues; these are most frequently brought on by additional physical pressures on the body, such as dehydration or severe activity.
A bone marrow or stem cell transplant is the only treatment recognized by the FDA as having the potential to treat Sickle Cell Disease.
Blood cells are created in the soft, fatty tissue called bone marrow, which is located in the core of the bones. A bone marrow or stem cell transplant involves taking healthy blood-forming cells from one person – the donor – and transferring them to a patient whose bone marrow isn’t functioning properly.
Transplants of bone marrow or stem cells carry a high risk of side effects. The bone marrow from the donor needs to be a close match for the transplant to be successful. Typically, a sibling makes for the ideal donor. The procedure is most common in cases of severe Sickle Cell Disease for children who have minimal organ damage from the disease.
The treatment of sickle cell disease aims to manage symptoms, prevent complications, and improve quality of life. It often involves a combination of approaches, including medications, pain management, blood transfusions, supplemental oxygen, and supportive care. In some cases, stem cell transplantation may be considered as a potential cure.
Pain crises, which are episodes of severe pain, are a common complication of sickle cell disease. They are managed with pain medications, such as nonsteroidal anti-inflammatory drugs (NSAIDs), opioids, and other analgesics. Hydration, warm compresses, and rest are also important measures. Severe pain crises may require hospitalization and intravenous pain medications.
Blood transfusions are commonly used in the treatment of sickle cell disease to increase the number of healthy red blood cells and decrease complications. Regular blood transfusions can help prevent stroke, reduce the risk of organ damage, and improve overall health. However, frequent transfusions can lead to iron overload, which may require additional treatments to manage.
Yes, there have been advancements in the treatment of sickle cell disease. Apart from hydroxyurea, newer medications, such as L-glutamine oral powder, have been approved for use in reducing the frequency of pain crises in certain patients. Gene therapy and gene editing techniques are also being studied as potential future treatment options for sickle cell disease
