Sickle Cell Disease
How do you get it
Sickle cell disease is a genetic disorder that affects the shape and function of red blood cells. Red blood cells are normally round and flexible, which allows them to carry oxygen to all parts of the body. However, in sickle cell disease, some red blood cells have a faulty hemoglobin protein, called hemoglobin S, that makes them become rigid and sickle-shaped. These sickle cells can block blood flow, cause pain and damage organs.
Sickle cell disease is inherited from both parents. Each person has two copies of the gene that makes hemoglobin, one from each parent. If a person inherits one normal hemoglobin gene (hemoglobin A) and one sickle hemoglobin gene (hemoglobin S), they have sickle cell trait. People with sickle cell trait are generally healthy, but they can pass on the sickle hemoglobin gene to their children. If a person inherits two sickle hemoglobin genes (hemoglobin S), they have sickle cell disease.
Sickle cell disease is more common in people who have ancestors from Africa, the Mediterranean, the Middle East, India and Latin America. In the United States, about 100,000 people have sickle cell disease and about 2 million people have sickle cell trait. The only way to know if you have sickle cell trait or disease is to have a blood test.
What Types are there
The type of SCD a person has depends on the genes they inherit from their parents. Each person inherits two genes for hemoglobin, one from each parent. There are different types of abnormal hemoglobin that can cause SCD, such as hemoglobin S, C, D, E, O, and beta thalassemia. The most common types of SCD are:
- Sickle cell anemia (HbSS): This is the most common and severe type of SCD. It occurs when a person inherits two genes for hemoglobin S. Hemoglobin S clumps together inside red blood cells and makes them sickle-shaped. People with sickle cell anemia have chronic anemia, frequent pain crises, and increased risk of infections and organ damage.
- Sickle cell trait (HbAS): This is not a type of SCD, but a condition where a person inherits one gene for hemoglobin S and one gene for normal hemoglobin A. People with sickle cell trait usually do not have any symptoms of SCD, but they can pass on the hemoglobin S gene to their children.
- HbSC: This is a milder type of SCD that occurs when a person inherits one gene for hemoglobin S and one gene for hemoglobin C. Hemoglobin C also changes the shape of red blood cells, but less severely than hemoglobin S. People with HbSC have mild anemia and less frequent pain crises than people with sickle cell anemia. However, they may have more problems with their eyes and bones.
- HbS beta thalassemia: This is a type of SCD that occurs when a person inherits one gene for hemoglobin S and one gene for beta thalassemia. Beta thalassemia is another condition that affects hemoglobin production and causes anemia. There are two subtypes of HbS beta thalassemia: HbS beta zero thalassemia and HbS beta plus thalassemia. The former is more severe and similar to sickle cell anemia, while the latter is milder and similar to HbSC.
- Other rare types of SCD: These include HbSD, HbSE, and HbSO, which occur when a person inherits one gene for hemoglobin S and one gene for another abnormal hemoglobin (D, E, or O). The severity of these types varies depending on the type of abnormal hemoglobin.
A simple blood test can determine what type of SCD a person has. People with SCD need regular medical care and treatment to manage their symptoms and prevent complications.
Complications
Some of the common complications of sickle cell disease are:
- Anemia: This is a condition where the body does not have enough healthy red blood cells to deliver oxygen to the tissues. People with sickle cell disease have anemia because their red blood cells die faster than normal ones. Anemia can cause fatigue, weakness, pale skin, jaundice and delayed growth or puberty.
- Pain crises: These are episodes of severe pain that occur when sickle cells block blood flow to organs or tissues. Pain crises can affect any part of the body, but often involve the chest, abdomen, joints and bones. Pain crises can last from hours to days and may require hospitalization and pain medication.
- Infections: Sickle cells can damage the spleen, an organ that helps fight infections. People with sickle cell disease are more prone to infections, especially by bacteria that cause pneumonia, meningitis and osteomyelitis. Infections can be life-threatening and require prompt treatment with antibiotics and vaccines.
- Stroke: Sickle cells can also block blood flow to the brain, causing a stroke. A stroke can damage brain cells and impair cognitive and motor functions. Stroke can occur at any age, but is more common in children with sickle cell disease. Stroke can be prevented by regular screening and treatment with blood transfusions or hydroxyurea.
- Organ damage: Sickle cells can also damage other organs by reducing their blood supply and oxygen delivery. Some of the organs that can be affected are the kidneys, liver, lungs, heart and eyes. Organ damage can lead to chronic problems such as kidney failure, liver cirrhosis, pulmonary hypertension, heart failure and vision loss.
Sickle cell disease is a serious and lifelong condition that requires regular medical care and monitoring. People with sickle cell disease can improve their quality of life by following their treatment plan, avoiding triggers of pain crises, staying hydrated, eating a balanced diet, exercising moderately and seeking emotional support.
Treatments
There is no cure for sickle cell disease, but treatments can help manage the symptoms and prevent serious problems. Some of the treatments for sickle cell disease are:
- Medications: There are different types of medications that can help people with sickle cell disease. Some of them are:
- Voxelotor: This is an oral medication that prevents red blood cells from forming the sickle shape and binding together. It can reduce the risk of anemia and improve blood flow to the organs.
- Crizanlizumab-tmca: This is an intravenous medication that helps prevent blood cells from sticking to blood vessel walls and causing blood flow blockage, inflammation, and pain crises.
- Hydroxyurea: This is an oral medication that can reduce or prevent several complications of sickle cell disease, such as pain crises, acute chest syndrome, infections, and hospitalizations. It can also stimulate the production of normal hemoglobin .
- Pain-relieving medications: These are medications that can help relieve pain during sickle cell pain crises. They may include narcotics or nonsteroidal anti-inflammatory drugs (NSAIDs).
- Blood transfusions: These are procedures that involve giving blood or blood components to a person with sickle cell disease. They can help increase the number of normal red blood cells, improve oxygen delivery to the tissues, and prevent or treat complications such as stroke, acute chest syndrome, or severe anemia .
- Bone marrow transplantation: This is a procedure that involves replacing the bone marrow of a person with sickle cell disease with healthy bone marrow from a donor. It can cure some patients who have sickle cell disease, but it has many risks and challenges. It is usually only considered for children and teenagers who have severe forms of the disease and a compatible donor .
People with sickle cell disease also need regular check-ups and screenings to monitor their condition and detect any complications early. They may also need to follow some self-care measures, such as drinking plenty of water, avoiding extreme temperatures, exercising moderately, getting enough rest, and eating a balanced diet .
How to manage pain crisis
The management of sickle cell pain crisis depends on the severity and location of the pain, as well as the individual's preferences and medical history. Some general strategies for managing sickle cell pain crisis are:
- Drink plenty of fluids to prevent dehydration and improve blood flow.
- Take over-the-counter painkillers, such as paracetamol/acetaminophen or ibuprofen, as directed by your doctor. Avoid aspirin for children.
- Use a heating pad, a hot bath, or a massage to relax the muscles and ease the pain.
- Get enough rest and avoid strenuous activities that may worsen the pain.
- Do activities that distract you from the pain, such as listening to music, reading, or playing games.
- Follow your individualized pain management plan, prepared by your doctor, that contains your contact details and treatment information specific to your health needs. This plan may include prescription opioids, such as codeine, tramadol, morphine, or oxycodone, for moderate to severe pain. However, these medications can have serious risks and side effects, so you should use them only as prescribed and under close supervision by your doctor.
- Seek medical attention at a sickle cell-specific acute care facility, such as a day hospital or an infusion center, if possible. These facilities are better equipped to evaluate, diagnose, and treat sickle cell pain crises than emergency departments. They may also offer other options for pain management, such as ketamine, transcutaneous electrical nerve stimulation (TENS), virtual reality, or guided audiovisual relaxation.
Sickle cell pain crises can be very distressing and debilitating, but they can be managed with proper care and support. It is important to work with your doctor to create and follow an individualized pain management plan that suits your needs and preferences. You should also try to avoid potential triggers of sickle cell pain crises and seek help when needed.
What are sickle cell pain crisis triggers?
A sickle cell pain crisis can be triggered by various factors that cause your blood vessels to constrict or reduce oxygen levels in your blood. Some of the common triggers are:
- Physical or psychological stress
- Cold weather or sudden change in temperature
- Pain from other causes, such as injury or infection
- Dehydration or loss of fluids
- Infection, especially viral infections that affect RBC production
- Very strenuous or excessive exercise
- High altitude or low oxygen environments
- Alcohol or tobacco use
Not all sickle cell pain crises have a clear trigger, and sometimes they can occur without any apparent reason. The frequency and severity of sickle cell pain crises vary from person to person, depending on their type of SCD and other factors. A sickle cell pain crisis can last from hours to days, and sometimes even weeks or months. It can affect any part of the body, but commonly causes pain in the back, legs, arms, chest, or abdomen.
Sickle cell pain crises can be managed with medication, hydration, rest, and other supportive measures. However, they can also lead to serious complications, such as acute chest syndrome, stroke, organ damage, or infection. Therefore, it is important to prevent sickle cell pain crises as much as possible by avoiding known triggers, staying healthy, and following your doctor’s advice.