Types of sickle cell disease

Sickle cell disease is a group of inherited disorders. The specific type of SCD a person has depends on which HBB gene mutations they inherited from their parents. The HBB gene gives instructions for a part of hemoglobin, which is the protein that travels through the blood to deliver oxygen throughout the body. 1 People with all types of SCD inherit the gene for hemoglobin S from 1 parent and a gene for another type of hemoglobin from 1 parent. Hemoglobin S (also called sickle hemoglobin) is the most common type of abnormal hemoglobin. It has a mutation that causes it to form rigid strands that make red blood cells stiff and sickle-shaped. 1 Some types of SCD may show more severe symptoms. However, severity also varies within each type because of other genetic and environmental factors. A Sickle cell anemia (HbSS) Sickle cell anemia is the most common and severe type of SCD. It happens when a person inherits 2 genes for hemoglobin S (1 from each parent). Hemoglobin S clumps together inside red blood cells. This makes red blood cells rigid and sickle-shaped. Sickle cells can block blood flow and break apart too soon. 2 This causes people with sickle cell anemia to experience chronic anemia (lack of red blood cells), unpredictable episodes of pain, and widespread organ damage. The severity and life expectancy of sickle cell anemia varies, but it is improving with better 3 Sickle cell trait (HbAS) When someone inherits 1 gene for hemoglobin S and 1 gene for normal hemoglobin ...

Sickle cell tests have become routine in newborn screenings, but older children and adults may need to be tested as well. Read on to see if you or a loved one might benefit from being tested for sickle cell. What Is a Sickle Cell Test? A sickle cell test is a blood test that checks for abnormal red blood cells called sickle cells. These can cause Sickle cell disease is an inherited disorder. It affects a protein in your red blood cells that carries oxygen to your tissues. The protein is called hemoglobin. Healthy red blood cells are round and flexible, which helps them move easily in your blood. With diseased hemoglobin, cells don't get the oxygen they need. They change shape and look like the letter C, a sickle shape. The cells get stuck together, which can lead to pain as well as blockages in your blood. Who Should Get a Sickle Cell Test? If you have a family history of sickle cell disease, you are more likely to have the disease. If you carry the sickle cell gene but don't get sick, you have Certain groups of people are more likely to be at risk, but all babies are screened for Your doctor might want to order a sickle cell test for you if: • You are a prenatal patient and either you or the other parent has sickle cell trait or hasn’t been tested • You are an immigrant and haven’t been tested before • Your family history is unknown • You have symptoms What Types of Sickle Cell Tests Are There? Except for prenatal screens, most sickle cell tests are simple blood tests. Co...

Sickle cell disease (a Overview of Hemoglobinopathies Hemoglobinopathies are genetic disorders affecting the structure or production of the hemoglobin molecule. Hemoglobin molecules consist of polypeptide chains whose chemical structure is genetically... read more ) causes a chronic hemolytic anemia occurring almost exclusively in people with African ancestry. It is caused by homozygous inheritance of genes for hemoglobin (Hb) S. Sickle-shaped red blood cells cause vaso-occlusion and are prone to hemolysis, leading to severe pain crises, organ ischemia, and other systemic complications. Acute exacerbations (crises) may develop frequently. Infection, bone marrow aplasia, or lung involvement (acute chest syndrome) can develop acutely and be fatal. Anemia is present, and sickle cells are usually evident on the peripheral smear. Diagnosis requires hemoglobin electrophoresis. Painful crises are treated with analgesics and other supportive measures. Transfusions are occasionally required. Vaccines against bacterial infections, prophylactic antibiotics, and aggressive treatment of infections prolong survival. Hydroxyurea can decrease the frequency of crises and the acute chest syndrome. Hemoglobinopathies are genetic disorders affecting the hemoglobin molecule. Hemoglobin S was the first abnormal hemoglobin to be identified. Homozygotes (about 0.3% of people with African ancestry in the United States) have sickle cell anemia; heterozygotes (8 to 13% of people with African ancestr...

Sickle cell anemia Red blood cells are usually round and flexible. In sickle cell anemia, some red blood cells look like sickles used to cut wheat. These unusually shaped cells give the disease its name. 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. 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 cris...

Sickle cell disease refers to a group of genetic disorders that affect hemoglobin. Red blood cells contain hemoglobin, which is a molecule that delivers oxygen to the body’s tissues. In sickle cell disease, a As a result, they can stick in the cardiovascular system. They are also unable to deliver oxygen effectively. This can affect the body in various ways. Currently, the only cure for sickle cell disease is a According to This article will look at why sickle cell disease occurs, how it affects the body, and some treatment options. Share on Pinterest Andrew Brookes/Getty Images Sickle cell disease is a genetic condition. A person can only have it if they inherit one or more faulty genes from their biological parents. If a person has a faulty gene from just one parent, they will have sickle cell trait but not sickle cell disease. If a person inherits a faulty gene from each parent, they will have sickle cell disease. There are several • HbSS: A person inherits two sickle cell genes, one from each parent. They will have sickle cell anemia, which is the most severe type of sickle cell disease. Doctors call it HbSS. • HbSC: A person inherits a sickle cell gene from one parent. From the other parent, they inherit a gene that results in another type of abnormal hemoglobin. HbSC is usually less severe than HbSS. • HbS beta-thalassemia: A person inherits a sickle cell gene from one parent and a gene for beta-thalassemia, another type of anemia, from the other. • Sickle cell trait...