Sickle cell disease what is it

It is important to keep in mind that each time this couple has a child, the chances of that child having sickle cell disease remain the same.

Both boys and girls can inherit sickle cell trait, sickle cell disease, or normal hemoglobin. If a person wants to know whether he or she carries a sickle hemoglobin gene, a doctor can order a blood test to find out. In the United States, most people who have sickle cell disease are of African ancestry or identify themselves as Black.

There are also many people who have sickle cell disease who come from Hispanic, southern European, Middle Eastern, or Asian Indian backgrounds. People who do not know whether they carry an abnormal hemoglobin gene can ask their doctor to have their blood tested.

Couples who are planning to have children and know that they are at risk of having a child with sickle cell disease may want to meet with a genetic counselor. A genetic counselor can answer questions about the risk and explain the choices that are available. If a person has sickle cell disease, it is present at birth. But most newborns do not have any problems from the disease until they are about 5 or 6 months of age. The symptoms of sickle cell disease can vary from person to person and can change over time.

Over time, you may experience symptoms depending on how sickle cell disease affects your health. People who have sickle cell disease also usually have mild to moderate anemia.

At times, however, they can have severe anemia. Severe anemia can be life-threatening. Severe anemia in a newborn or child who has sickle cell disease may be a result of:. Aplastic crisis and splenic sequestration crisis most commonly occur in newborns and children who have sickle cell disease.

Adults who have sickle cell disease may also experience episodes of severe anemia, but these usually have other causes. Babies and newborns who have severe anemia may not want to eat and may seem very sluggish. Your doctor may use a number of tests to diagnose sickle cell disease if various screening tests show that you might have the condition.

This way, they can learn whether they carry a gene—or have the trait—for an abnormal hemoglobin that they could pass on to a child. When a child has sickle cell disease, early diagnosis is important to better prevent complications.

The hemoglobin from this blood is then analyzed in special labs. If a baby is found to have sickle cell disease, health providers from a special follow-up newborn screening group contact the family directly to make sure that the parents know the results.

The child is always retested to be sure that the diagnosis is correct. Newborn screening programs also find out whether the baby has an abnormal hemoglobin trait. If so, the parents are informed, and counseling is offered. Doctors can also diagnose sickle cell disease before a baby is born.

Testing before birth can be done as early as 8 to 10 weeks into the pregnancy. This testing looks for the sickle hemoglobin gene rather than the abnormal hemoglobin. A blood and bone marrow transplant is currently the only cure for some patients who have sickle cell disease. After early diagnosis, your doctor may recommend medicines or transfusions to manage complications, including chronic pain.

Babies who have sickle cell disease may see a hematologist, a doctor who specializes in blood diseases such as sickle cell disease. For newborns, the first sickle cell disease visit should take place before 8 weeks of age. The U. Food and Drug Administration FDA approved a new medicine in to treat sickle cell disease in adults and children 12 years and older.

The oral medicine prevents red blood cells from forming the sickle shape and binding together. This may decrease the destruction of some red blood cells, which in turn lowers the risk for anemia and improves blood flow to your organs.

Possible side effects include headache, diarrhea, abdominal pain, nausea, fatigue, and fever. Rarely, allergic reactions may occur, causing rashes, hives, or mild shortness of breath. Talk to your doctor about other medicines you take. In , the FDA also approved a new medicine to reduce the number of pain crises experienced by adults and children 16 years and older who have sickle cell disease.

The medicine, which is given through an IV in the vein, helps prevent blood cells from sticking to blood vessel walls and causing blood flow blockage, inflammation, and pain crises. Possible side effects include nausea, joint pain, back pain, and fever. In children who have sickle cell disease, taking penicillin two times a day has been shown to reduce the chance of having a severe infection caused by the pneumococcus bacteria. Newborns need to take liquid penicillin.

Older children can take tablets. Many doctors will stop prescribing penicillin after a child has reached the age of 5. All people who have had surgical removal of the spleen, called a splenectomy , or a past infection with pneumococcus should keep taking penicillin throughout life. Hydroxyurea is an oral medicine that has been shown to reduce or prevent several sickle cell disease complications.

Rarely, it can worsen anemia. These side effects usually go away quickly if a patient stops taking the medicine. When the patient restarts it, the doctor usually prescribes a lower dose. It is still unclear whether hydroxyurea can cause problems later in life in people who have sickle cell disease and take the medicine for many years.

Studies so far suggest that it does not put people at a higher risk of cancer and does not affect growth in children, but further studies are needed. Read more about hydroxyurea. Your doctor may recommend transfusion to treat and prevent certain sickle cell disease complications. These transfusions may include:. A blood and bone marrow transplant is currently the only cure for sickle cell disease, but it is not for everyone. Most patients who have sickle cell disease either are too old for a transplant or do not have a relative who is a good enough genetic match to be a donor.

A well-matched donor is needed for a patient to have the best chance for a successful transplant. Most sickle cell disease transplants are currently performed in children who have had complications such as strokes, acute chest crises, and recurring pain crises. These transplants usually use a matched donor. Blood and bone marrow transplants are riskier in adults.

Several medical centers are looking into new ways to help more people who have sickle cell disease get a transplant. These include blood and bone marrow transplant techniques in children and adults who do not have a matched donor in the family or who are older than most recipients. Even with this high success rate, transplants still have risks. Complications can include severe infections, seizures, and other clinical problems.

This is called graft-versus-host disease. You will get medicine to prevent many of the complications, but they still can happen. Learn more about blood and bone marrow transplants. Researchers at the NHLBI are exploring ways genetic therapies may help develop new treatments or find a cure for sickle cell disease.

Watch this video to learn about how genome editing works and how it could be used to treat sickle cell disease. Genetic therapy involves either restoring a faulty or missing gene or adding a new gene that improves the way the cell works.

Researchers take blood or bone marrow from a patient and modify their stem cells in a laboratory using genetic therapies. Modified stem cells can be injected into the blood, then the cells travel in the bloodstream to the marrow spaces inside the bones. Once inside the bone marrow, the cells can produce healthy red blood cells that do not sickle. Follow these steps to help relieve symptoms and reduce your chances of serious problems, such as pain crises and other complications of sickle cell disease.

Learn more about how to manage pain. Get more tips for healthy living with sickle cell disease. Sickle cell disease can lead to serious and life-threatening health problems.

If you think you or someone else is having any of the following symptoms or complications, seek medical care or call 9—1—1 right away. Pregnant women who have sickle cell disease are at greater risk for problems. If you are pregnant or planning for pregnancy, meet with a doctor who specializes in high-risk pregnancies and has experience with patients who have sickle cell disease.

Your doctor may prescribe certain vitamins and will be careful to prescribe pain medicines that are safe for you and your baby. You should not use hydroxyurea during pregnancy. You may need to have one or more blood transfusions during pregnancy to treat problems, such as anemia symptoms that get worse. You may also experience more pain crises or be at higher risk of having acute chest syndrome. Your doctor will talk to you about how to help prevent these complications. We are committed to advancing science and translating discoveries into clinical practice to promote the prevention and treatment of heart, lung, blood, and sleep disorders, including sickle cell disease.

Learn about current and future NHLBI efforts to improve health through research and scientific discovery. Learn about some of the ways we continue to translate current research into improved health for patients who have sickle cell disease.

Learn about the pioneering research contributions we have made over the years that have improved clinical care and increased life expectancy for people who have sickle cell disease.

In support of our mission , we are committed to advancing sickle cell disease research in part through the following ways. Learn about other exciting ways we are advancing research to improve the lives of people with sickle cell disease. We lead or sponsor many studies on sickle cell disease. See whether you or someone you know is eligible to participate in our clinical trials. To learn more about clinical trials at the NIH Clinical Center or to talk to someone about a study that might fit your needs, call the Office of Patient Recruitment Learn more about participating in a clinical trial.

View all trials from ClinicalTrials. Visit Children and Clinical Studies to hear experts, parents, and children talk about their experiences with clinical research. After reading our Sickle Cell Disease Health Topic, you may be interested in additional information found in the following resources.

Sickle Cell Disease. See also. Types - Sickle Cell Disease. Causes - Sickle Cell Disease. Hemoglobin S gene Sickle cell disease is an inherited disease caused by defects, called mutations , in the beta globin gene that helps make hemoglobin. Normal red cells and sickle red cells.

Figure A shows normal red blood cells flowing freely in a blood vessel. The inset image shows a cross-section of a normal red blood cell with normal hemoglobin. Figure B shows abnormal, sickled red blood cells blocking blood flow in a blood vessel. The inset image shows a cross-section of a sickle cell with abnormal sickle hemoglobin forming abnormal stiff rods. How is the hemoglobin S gene inherited? Did you know SCD affects people from many parts of the world? The severity of these rarer types of SCD varies.

This is called sickle cell trait SCT. People with SCT usually do not have any of the signs of the disease and live a normal life, but they can pass the trait on to their children.

Additionally, there are a few, uncommon health problems that may potentially be related to sickle cell trait. SCD is a genetic condition that is present at birth. It is inherited when a child receives two sickle cell genes—one from each parent. SCD is diagnosed with a simple blood test. It most often is found at birth during routine newborn screening tests at the hospital.

In addition, SCD can be diagnosed before birth. Normally, the flexible, round red blood cells move easily through blood vessels. In sickle cell anemia, the red blood cells are shaped like sickles or crescent moons. These rigid, sticky cells can get stuck in small blood vessels, which can slow or block blood flow and oxygen to parts of the body.

There's no cure for most people with sickle cell anemia. But treatments can relieve pain and help prevent complications associated with the disease. Signs and symptoms of sickle cell anemia usually appear around 5 months of age. They vary from person to person and change over time. Signs and symptoms can include:. Sickle cells break apart easily and die, leaving you with too few red blood cells.

Red blood cells usually live for about days before they need to be replaced. But sickle cells usually die in 10 to 20 days, leaving a shortage of red blood cells anemia. Episodes of pain. Periodic episodes of 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.

Pain can also occur in your bones. What causes sickle cell disease SCD? Who is at risk for sickle cell disease SCD? What are the symptoms of sickle cell disease SCD? Early symptoms of SCD may include Painful swelling of the hands and feet Fatigue or fussiness from anemia A yellowish color of the skin jaundice or the whites of the eyes icterus The effects of SCD vary from person to person and can change over time.

How is sickle cell disease SCD diagnosed? What are the treatments for sickle cell disease SCD? There are treatments that can help relieve symptoms, lessen complications, and prolong life: Antibiotics to try to prevent infections in younger children Pain relievers for acute or chronic pain Hydroxyurea, a medicine that has been shown to reduce or prevent several SCD complications.

It increases the amount of fetal hemoglobin in the blood. This medicine is not right for everyone; talk to your health care provider about whether you should take it. This medicine is not safe during pregnancy. Childhood vaccinations to prevent infections Blood transfusions for severe anemia. If you have had some serious complications, such as a stroke , you may have transfusions to prevent more complications. There are other treatments for specific complications. Start Here. Diagnosis and Tests.

Treatments and Therapies. Blood and Bone Marrow Transplant?