Causes of sickle cell anemia

Sickle cell disease can result from mutations within different parts of the HBB gene. This results in dysfunctional hemoglobin proteins and different presentations of sickle cell disease. These include: • HbSS: If you have inherited the sickle cell gene from both of your parents, you will likely have symptomatic sickle cell disease. • HbS beta thalassemia: You could have this type of sickle cell disease if you inherit a gene for sickle cell disease from one parent and a gene for beta thalassemia (a different kind of hemoglobin disorder) from the other parent. Symptoms can be more severe than other forms of sickle cell disease. • HbSC, HbSD, HbSE, HbSO: You may have one of these sickle cell disease variants if you inherit the sickle mutation of the HBB gene from one of your parents and a different mutation in the HBB gene from the other parent. Symptoms may vary. Does My Baby Have Sickle Cell Anemia Symptoms? The symptoms of sickle cell disease and sickle cell anemia are usually episodic, meaning they are not present all the time. What Happens During a Sickle Cell Anemia Crisis? A sickle cell anemia crisis occurs when the blood cells change their shape to resemble a collapsed sickle shape (like the letter "C"), instead of a smooth, round shape with central indentation. This sickle shape results in stickiness of the cells, causing an accumulation of red blood cells that may obstruct blood vessels throughout the body. Sickle cell disease is a chronic condition. Making sure th...

Sickle cell disease (SCD) is a genetic disorder that causes red blood cells to take the shape of a sickle or a letter “C.” Levels of hemoglobin, a protein that helps carry oxygen on red blood cells, are also typically low. Red blood cells Low hemoglobin is Read on to learn more about how sickle cell anemia can affect the structure and levels of hemoglobin, as well as how doctors might diagnose and treat this disease. Lower hemoglobin levels can make it more difficult for red blood cells to carry oxygen throughout the body. This can cause a wide range of symptoms, including pain and exhaustion. Over time, SCD In addition to causing low hemoglobin levels, Sickled cells are also more likely to stick together, which can increase the risk of dangerous blood clots and Does sickle cell trait affect hemoglobin levels? When a person has Because people with sickle cell trait have only one gene that affects hemoglobin, they usually have enough normal hemoglobin to prevent them from developing symptoms. Can physical activity affect hemoglobin levels? When a person experiences intense physical As a result, a person may develop a life threatening complication called rhabdomyolysis, which damages muscles, causing them to break down and release harmful substances into the blood. In sickle cell anemia, the hemoglobin protein is not normal. A HBB gene causes the hemoglobin to contain a chemical called valine instead of glutamic acid in protein chains that form hemoglobin. This damages red b...

Overview Sickle cell anemia is one of a group of inherited disorders known as sickle cell disease. It affects the shape of red blood cells, which carry oxygen to all parts of the body. Red blood cells are usually round and flexible, so they move easily through blood vessels. In sickle cell anemia, some red blood cells are shaped like sickles or crescent moons. These sickle cells also become rigid and sticky, which can slow or block blood flow. There's no cure for most people with sickle cell anemia. Treatments can relieve pain and help prevent complications associated with the disease. Symptoms Signs and symptoms of sickle cell anemia usually appear around 6 months of age. They vary from person to person and may change over time. Signs and symptoms can include: • Anemia. Sickle cells break apart easily and die. Red blood cells usually live for about 120 days before they need to be replaced. But sickle cells typically die in 10 to 20 days, leaving a shortage of red blood cells (anemia). Without enough red blood cells, the body can't get enough oxygen and this causes fatigue. • Episodes of pain. Periodic episodes of extreme pain, called pain crises, are a major symptom of sickle cell anemia. Pain develops when sickle-shaped red blood cells block blood flow through tiny blood vessels to your chest, abdomen and joints. The pain varies in intensity and can last for a few hours to a few days. Some people have only a few pain crises a year. Others have a dozen or more a year. A s...

What is sickle cell anemia? Sickle cell anemia, or sickle cell disease (SCD), is a genetic disease of the red blood cells (RBCs). Normally, RBCs are shaped like discs, which gives them the flexibility to travel through even the smallest blood vessels. However, with this disease, the RBCs have an abnormal crescent shape resembling a sickle. This makes them sticky and rigid and prone to getting trapped in small vessels, which blocks blood from reaching different parts of the body. This can cause pain and tissue damage. SCD is an autosomal recessive condition. You need two copies of the gene to have the disease. If you have only one copy of the gene, you are said to have sickle cell trait. Symptoms of sickle cell anemia usually show up at a young age. They may appear in babies as early as 4 months old, but generally occur around the 6-month mark. While there are multiple types of SCD, they all have similar symptoms, which vary in severity. These include: • excessive fatigue or irritability, from anemia • fussiness, in babies • bedwetting, from associated kidney problems • jaundice, which is yellowing of the eyes and skin • swelling and pain in hands and feet • frequent infections • pain in the chest, back, arms, or legs Hemoglobin is the protein in red blood cells that carries oxygen. It normally has two alpha chains and two beta chains. The four main types of sickle cell anemia are caused by different mutations in these genes. Hemoglobin SS disease Hemoglobin SS disease is t...

Sickle cell anemia is caused by a genetic condition inherited from both parents. Sickle cell anemia is a disease in which people have some red blood cells with an abnormal crescent shape, which can cause blocked blood vessels, pain, and organ damage. • Red blood cells carry oxygen to the organs in the body using a protein called • Normal red blood cells are disc-shaped and flexible so they can fit through small blood vessels. • People who have sickle cell disease have some red blood cells with an abnormal crescent shape that resembles a farming tool called a sickle, which is how the disease got its name. • These sickle cells can catch on one another or stick to blood vessel walls where they can accumulate and cause blood vessels to become blocked. Blocked blood vessels prevent the organs from getting the oxygen they need which can result in pain or organ damage. • Sickle cell • If a person gets the sickle cell gene from just one parent, they will have other forms of sickle cell disease, or they will have “sickle cell trait,” in which a person has some minor health risks, no symptoms are present, and the gene can be passed to their children. What Are Symptoms of Sickle Cell Anemia? Symptoms of sickle cell anemia frequently begin when a baby is a few months old and may include: • Pain crisis, also called sickle crisis • May be mild or severe • Can last hours to days • In the bones, chest, or other parts of the body • In • Pain in the hands and • In older children and adults ...