Sickle cell disease (also called SCD) is a blood disorder heanded down genetically. The red blood cells have an abnormal shape. It hinders the the body's ability to carry oxygen effectively. This hereditary condition dates back to ancient times, with the first recorded description of its symptoms found in writings from Egypt around 1550 BCE. However, it was not until 1910 that the disease was officially recognized and named. Today, SCD continues to pose a significant health challenge globally. It is estimated that approximately 300,000 infants are born with SCD each year, with the majority of cases occurring in sub-Saharan Africa.
Signs and Symptoms of Sickle Cell Disease
There are many symptoms that suggest a person may be suffering from sickle cell disease. Some of the common ones include:
- Pain Crises - These episodes can be excruciating and debilitating, causing severe pain in various parts of the body, such as the chest, abdomen, joints, or bones. The pain arises due to the abnormal sickle-shaped red blood cells getting stuck in blood vessels, impeding the flow of oxygen and causing tissue damage. Pain crises can last for hours to days and require medical intervention to manage the discomfort.
- Fatigue - Chronic fatigue and weakness are often present due to the reduced oxygen-carrying capacity of the sickle-shaped red blood cells. The abnormal cells have a shorter lifespan and are prone to destruction, leading to anemia. Anemia, characterized by low hemoglobin levels, can result in fatigue, shortness of breath, rapid heart rate, and overall weakness.
- Swelling of Hands and Feet - This is often observed during a sickle cell crisis when the abnormal sickle-shaped red blood cells block the blood vessels, impeding proper circulation. The restricted blood flow can cause swelling and edema in the affected extremities. The swelling may be accompanied by pain and tenderness, further adding to the discomfort experienced by individuals with SCD.
- Frequent Infections - The abnormal sickle-shaped red blood cells can impair the spleen's function, which plays a vital role in fighting off infections. As a result, people with SCD are more susceptible to bacterial infections, particularly pneumonia. The weakened immune response can make it harder for the body to fight off these infections effectively.
Causes of Sickle Cell Disease
SCD is caused by a mutation in the gene responsible for producing hemoglobin, the protein that carries oxygen in red blood cells. This mutation affects the beta-globin subunit of hemoglobin. As a result, an abnormal hemoglobin known as hemoglobin S is produced. It causes red blood cells to become rigid and take on a sickle shape under certain conditions, such as low oxygen levels or increased stress.
The mutation responsible for SCD is inherited in an autosomal recessive manner. This means that a person is going to have to inherit a copy of the mutated gene from each of the two parents, to develop the disease. If an individual inherits only one copy of the mutated gene and one normal copy, they will have a condition known as sickle cell trait, which typically does not cause symptoms of SCD.
Treating Sickle Cell Disease
While there is no known cure for SCD, various treatment options are available. They help to manage symptoms, prevent complications, and improve the overall quality of life for individuals with the condition.
Pain Management - Pain medications are used and tailored to the severity of the pain. Additionally, non-pharmacological approaches like heat therapy, massage, and relaxation techniques can provide relief and help individuals cope with the pain.
Blood Transfusions - Regular transfusions can help increase the number of healthy red blood cells and improve oxygen delivery throughout the body. This can prevent complications associated with SCD, such as stroke and organ damage. Transfusions are particularly beneficial for patients with severe forms of the disease or those at high risk of complications.
Bone Marrow Transplant - This procedure involves replacing the patient's diseased bone marrow with healthy cells from a compatible donor. The new bone marrow cells have the potential to produce healthy red blood cells, reducing or eliminating the symptoms of SCD. Close monitoring and evaluation by a specialized medical team are necessary to assess eligibility, manage potential risks, and ensure successful engraftment of the transplanted cells.
Sickle cell disease may present numerous challenges, but it is important to emphasize that it is not a death sentence. By working closely with healthcare providers, adopting a comprehensive approach to care, and maintaining a positive mindset, individuals with SCD can navigate the challenges of the condition, enhance their quality of life, and pursue their goals and dreams with resilience and optimism.