What To Know about Sickle Cell Disease (SCD)...

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Medically reviewed by Steffini Stalos, DOMedically reviewed by Steffini Stalos, DOSickle cell disease (SCD) is an inherited health condition that slows the flow of red blood cells in your body. For people with SCD, hemoglobin S (a mutated protein that transports oxygen) causes red blood cells to become curved (sickle-shaped) and stiff. This disrupts how easily red blood cells and the oxygen they carry can move through your blood vessels.In SCD, sickle-shaped cells clump together and block small blood vessels, leading to organ damage and other health complications. Common symptoms include severe pain, fatigue, and frequent infections. There is no cure for sickle cell disease, but there are treatment options that can reduce complications.This type of blood disorder disproportionally affects people of African descent. In the United States, about one in 365 African American children are born with SCD. People of Hispanic, Middle Eastern, and Indian descent also have higher rates of SCD.TypesThe type of SCD you have depends on which genes you inherited from one or both of your parents.Hemoglobin SS (HbSS): Also known as sickle cell anemia, this type of SCD comes from inheriting the hemoglobin S gene (or sickle cell gene) from both parents.Hemoglobin SC (HbSC): This type involves having two different mutated hemoglobin genes, where one parent passes on the hemoglobin S gene and the other passes on the hemoglobin C gene (a type of mutated hemoglobin). HbSC is usually less severe than HbSS.HbS beta thalassemia: This type combines hemoglobin S with another blood condition called beta thalassemia. HbS comes in two forms—beta zero and beta plus. In beta zero, the body does not make healthy hemoglobin, which leads to more serious complications. Beta plus allows some healthy hemoglobin production, so symptoms are usually milder.HbSS is the most common and severe form of sickle cell disease. Rarer types of sickle cell disease include HbSD, HbSE, and HbSO. They occur when a person inherits the hemoglobin S gene from one parent and a gene for another unusual type of hemoglobin, such as D, E, or O, from the other parent.SymptomsSCD symptoms vary depending on age, the type of SCD you have, and the frequency of treatment. Symptoms of SCD may be noticeable in infants as young as five to six months old. Still, symptoms aren't the same for everyone. Some people might experience severe symptoms requiring frequent hospitalizations, while others might have milder symptoms.Sickle cell disease symptoms may include:Pain in your joints, bones, and abdomen Fatigue Anemia (low red blood cell count) Yellowing of the skin or eyes, known as jaundiceSwollen hands and feet (dactylitis)Priapism (persistent and often painful erections)Frequent infections as a result of damaged spleenDelayed growth in childrenWhat Causes Sickle Cell Disease?Sickle cell disease is an inherited condition typically passed down from parents to their children through genes. To have sickle cell disease, a person must be born with two sickle cell genes. The severity of the disease depends on how it is inherited.Getting the trait from both parents ensures you will have sickle cell disease. However, if one parent passes down the hemoglobin S gene and the other does not, the child will only carry the sickle cell trait. Although carrying sickle cell trait does not mean you have sickle cell disease, you could still pass it on to your children.Risk FactorsSickle cell disease can affect anyone, but people of African, Hispanic, and Middle Eastern descent have the highest risk of developing sickle cell disease. Sickle cell trait is also common in people from parts of Asia and India. Having two parents with the sickle cell trait increases your risk of having some form of SCD.How Is Sickle Cell Disease Diagnosed?Sickle cell disease is generally diagnosed through a blood test. In the United States, newborns are routinely screened for SCD.To do this test, a healthcare provider takes a tiny drop of blood from the baby's heel. They send the blood to a lab to check for sickle cell trait and other potential preexisting conditions. They may perform another blood test when the baby is 3-6 months old. If you have symptoms or a family history of SCD, you can request that your primary healthcare provider perform a blood test to check for sickle-shaped cells. They may also use genetic testing to look for the specific gene that causes the condition. These tests can determine whether you have the disease or the trait and help identify the type of SCD.TreatmentAlthough there's currently no widely available cure for sickle cell disease, a hematologist can help ease symptoms through different treatment options. A bone marrow transplant is a cure that works for some people but is not as accessible for everyone. Some healthcare providers may use a red blood cell apheresis exchange to get rid of harmful red blood cells using a machine.SCD is a condition that often becomes more severe over time. The main treatment goals are alleviating pain, reducing blood cells containing HbSS, minimizing organ damage, and preventing complications.MedicationsA few medications can help treat different aspects of sickle cell disease. For example, hydroxyurea (Hydrea) is a commonly used treatment that can help your body make more healthy red blood cells and reduce bouts of severe pain. Other U.S. Food and Drug Administration (FDA) approved medications to treat sickle cell disease include Oxbryta (voxelotor), Endari (L-glutamine), and Adakveo (crizanlizumab).Children with SCD may be prescribed antibiotics such as penicillin to reduce their risk of infections. Pain relievers like Tylenol (acetaminophen) and Advil (ibuprofen) can help manage mild to moderate pain. A healthcare provider may prescribe stronger prescription medicines if you are experiencing severe pain.Blood TransfusionsThis treatment involves receiving donor blood to increase the amount of healthy red blood cells in your body. These healthy cells can carry oxygen more effectively, which helps prevent severe anemia. Blood transfusions can also lower the percentage of sickle-shaped cells in the blood, reducing the risk of other health complications like stroke.Bone Marrow TransplantThis procedure replaces damaged bone marrow—the spongy tissue inside bones where blood cells are made—with healthy marrow from a donor. It helps your body produce healthy red blood cells. However, the process of receiving a transplant can be long and complicated. It requires a well-matched donor (often a family member) and involves risks such as your body not reacting well to the transplant or infection.Gene TherapyIn December 2023, the FDA approved the first gene therapy to treat sickle cell disease. This treatment involves taking a person’s blood or bone marrow to a lab and altering red blood cells. The modified cells are then put back into the person's body. While this is an exciting breakthrough, it's still very new, and access is limited.PreventionSince sickle cell disease is inherited, you cannot prevent yourself from getting it. If you’re planning on becoming a parent, you and your partner can choose to take a genetic test to see if you are carriers of any mutated genes that can lead to SCD. This can help determine the chances that you may pass on the condition to your child or have a child who’s a carrier.An internal medicine doctor or hematologist (a doctor specializing in blood disorders) can determine whether or not your child is likely to develop SCD even before birth. This involves genetic tests like examining the amniotic fluid (the fluid surrounding the fetus in the womb) or a small placenta sample. This test can be performed as early as eight to 10 weeks into the pregnancy.While there is not yet a cure for sickle cell disease, there are ways to reduce the severity of some symptoms. Steps you can take to alleviate pain, reduce infections, and the risk of other health conditions include the following:Stay hydratedBe mindful of hydration and protection in extreme heat or coldKeep up with vaccinationsFollow a nutritious eating planExercise regularlyTake medications as recommended by your healthcare providerVisit your hematologist and other specialists on your healthcare team for regular screeningsAvoid high altitude environments (flying, mountain climbing, and more) when possibleComplicationsAs sickle-shaped cells move through your bloodstream, they can damage organs and tissues in your body.Organ and tissue damage from SCD can cause serious complications, including:Acute chest syndrome: This is a severe lung complication where sickle cells block blood flow in the lungs, causing chest pain and trouble breathing.Avascular necrosis: When this occurs, bone tissue dies due to a lack of blood supply. It most often affects the hip joint.Blood clots: Sickle cells can cause blood to clot more quickly, blocking blood flow to different parts of your body. This can lead to deep vein thrombosis (DVT), when blood clots form in the large veins, usually in your legs.Kidney problems: Sickle cells can limit blood flow to your kidneys. This can lead to kidney damage or chronic kidney disease (CKD), making it difficult for your kidneys to clean your blood effectively.Liver issues: Your liver may become damaged from working overtime to replace sickled cells.Pulmonary hypertension: High blood pressure can occur due to blood vessel damage, making it hard for your heart to pump blood through your lungs. Pulmonary hypertension is a potentially life-threatening condition. Splenic sequestration: Sickle cells can get trapped in the spleen, causing it to enlarge. Stroke: Sickle cells block blood vessels and cut off oxygen to your brain.Vision loss: Sickle cells can damage blood vessels in the eye, leading to vision problems or blindness.Living With Sickle Cell DiseaseSickle cell disease is a blood disorder where the altered protein hemoglobin S changes the shape of red blood cells into a sickle shape. This makes it more difficult for red blood cells to move throughout your body. This disruption in blood flow can cause intense pain, anemia, fatigue, and shortness of breath, among other symptoms. More severe cases may result in organ damage and blurry vision.Every person who carries the sickle cell trait will not automatically develop SCD. However, if both of your parents carry a gene for SCD, you are more likely to develop the disease. A hematologist can help you come up with a treatment plan for living with SCD. Although there is no widely available cure for SCD, there are various treatments and medications available to help manage symptoms.Frequently Asked Questions

How long can someone with sickle cell disease live?

Many people with sickle cell disease live into their 50s, with some living even longer. However, on average, people with sickle cell disease typically live about 20 years less than the general population.

Does sickle cell disease get worse with age?

Some sickle cell disease complications may become more common or severe with age, but the disease can affect people differently.

What organ does sickle cell disease damage?

Sickle cell disease can affect many organs in the body. The most commonly affected organs include the lungs, heart, kidneys, and liver. Sickle cells can block blood flow to these organs, causing damage over time.

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