Sickle cell what is it

You are born with it. There are many possible reasons, including anemia. Sickle cell pain happens when sickled blood cells get stuck in blood vessels. Instead, they can catch on each other and form pile-ups. These pile-ups mean that your organs and tissues may not be getting the oxygen that they need. Healthy red blood cells are round, and they move through small blood vessels to carry oxygen to all parts of the body. The sickle cells die early, which causes a constant shortage of red blood cells.

Also, when they travel through small blood vessels, they get stuck and clog the blood flow. This can cause pain and other serious problems such infection, acute chest syndrome and stroke. This is commonly called sickle cell anemia and is usually the most severe form of the disease. Hemoglobin is a protein that allows red blood cells to carry oxygen to all parts of the body.

This is usually a milder form of SCD. 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. Do not travel in an aircraft cabin that is unpressurized. If you experience priapism prolonged, painful erection , you may be able to relieve your symptoms by doing light exercise, emptying your bladder by urinating, drinking more fluids, and taking medicine recommended by your doctor.

If your child attends daycare, preschool, or school, speak to his or her teacher about the disease. Teachers need to know what to watch for and how to accommodate your child.

They should try to feel for the spleen daily and more often when the child is ill. If the spleen feels larger than usual, they should call the care provider. Seek help if you have feelings of depression or anxiety. Supportive counseling and, sometimes, antidepressant medicines may help.

Know when to seek emergency medical care Sickle cell disease can lead to serious and life-threatening health problems. Symptoms of severe anemia, including extreme tiredness fatigue , shortness of breath, dizziness, or irregular heartbeat.

Splenic sequestration crisis or an aplastic crisis can cause severe anemia symptoms. These conditions can be life-threatening. All children and adults who have sickle cell disease and a fever of more than Some people will need to be hospitalized. Symptoms of acute chest syndrome, including chest pain, coughing, fever, and shortness of breath.

You will need to be admitted to the hospital, where you may receive antibiotics, oxygen therapy, or a blood transfusion. Signs and symptoms of a stroke, such as sudden weakness, numbness on one side of the body, confusion, or trouble speaking, seeing, or walking.

If you experience priapism that lasts for 4 hours or more, go to the hospital to see a hematologist and urologist. Pregnancy and sickle cell disease Pregnant women who have sickle cell disease are at greater risk for problems. Research for Your Health. Improving health with current research. The goal is to have these genetic therapies ready to safely use in clinical research within five to 10 years. The Initiative is patient-focused, and it will bring together researchers, private sector researchers, patients, providers, advocacy groups, and others as it supports research, education, and community engagement activities.

A Legacy of Research Excellence. We have supported research on sickle cell disease since our founding in With each decade since, the NHLBI has kept a sustained focus on advancing the understanding of sickle cell disease and improving clinical care.

The NHLBI is committed to building on its legacy of research excellence to find new treatments, cures, and personalized care for the approximately , Americans and over 20 million people worldwide who have sickle cell disease. Researchers found that African Americans who have sickle cell trait were not at an increased risk of stroke.

Each year, we bring together researchers and health professionals to discuss clinical trials, research, and clinical care for sickle cell disease. Explore resources from the annual meeting.

More than 75 percent of newborns who have sickle cell disease are born in sub-Saharan Africa. By funding the Sickle Cell Disease in Sub-Saharan Africa Collaborative Consortium and associated Data Coordinating Center, we are building the regional capabilities to research sickle cell disease and monitor patients in Africa. We also support development of an inexpensive and simple screening test for use in sub-Saharan Africa, an area where medical resources and access to newborn screening tests are limited.

The test can lead to earlier diagnoses and treatment for children who have sickle cell disease in these areas. Advancing research on sickle cell treatment from the laboratory to clinical trials. NHLBI funding supports research on a new medicine for sickle cell disease to increase healthy fetal hemoglobin that can replace the sickle cell hemoglobin.

Read more. This graph shows the average life expectancy for people with sickle cell disease from to Starting in , life expectancy begins making a sharp increase, rising to around 14 years in and surging to more than 40 years by This longer lifespan for patients with sickle cell disease is in part due to clinical use of penicillin, hydroxyurea, and blood transfusions that were proven to be safe and effective interventions in landmark NHLBI-funded trials.

Read less. Advancing research for improved health. We perform research. Our Division of Intramural Research , which includes investigators in our Sickle Cell Branch and Sickle Cell Program , is actively engaged in sickle cell disease research.

We fund research. The research we fund today will help improve our future health. Our Division of Blood Diseases and Resources DBDR oversees the sickle cell disease research we fund, as well as the external clinical research centers. We stimulate high-impact research. Our Trans-Omics for Precision Medicine TOPMed Program includes participants who have sickle cell disease, which may help us understand how genes contribute to differences in disease severity and how patients respond to treatment.

The NHLBI Strategic Vision highlights ways we may support research over the next decade, including new efforts for sickle cell disease. Assessing the use of red blood cell transfusions to treat heart and lung complications in sickle cell disease. People who have sickle cell disease can develop damage in their heart and lungs over time.

We support a study to test whether red blood cell transfusions can help improve symptoms and prevent potentially dangerous damage to heart and lung tissue. Designing a device for noninvasive screening for sickle cell disease. We are supporting the testing of a noninvasive device that can detect sickle cell disease in newborn babies and children through their breath. This breath test device is designed to support early diagnosis of sickle cell disease in countries with fewer resources.

Determining effective hydroxyurea doses for patients who have sickle cell disease. Studies have shown that treating with the right dose of hydroxyurea may help patients who have sickle cell disease live longer, healthier lives.

We are working to develop a computer-based protocol that can determine safe and effective doses of hydroxyurea for patients who have sickle cell disease. Finding common standards for data about patients who have sickle cell disease. To support further investigations, researchers are defining a set of standard measures for reporting on sickle cell disease. Some patients have used the measures to report on the severity of their condition.

These measures can be used to ensure high-quality, synchronized data in sickle cell disease research. Developing rapid diagnostic testing to reduce childhood mortality due to sickle cell disease in sub-Saharan Africa. In sub-Saharan Africa, an estimated 50 to 90 percent of children with sickle cell disease will die young. Newborn screening programs coupled with prophylactic penicillin and pneumococcal vaccines have been very effective at reducing the risk of death from sickle cell disease among children in Northern Africa.

Therefore, we are funding the development of rapid, accurate, and low-cost tests to diagnose sickle cell disease and sickle cell trait that can enable more widespread screenings of newborns in Africa. Expanding the stem cell transplant options for adults who have sickle cell disease. We are working to develop stem cell transplant procedures for patients who do not have a well-matched donor.

Since many people cannot find matches, this option would greatly expand the number of people who have sickle cell disease who could receive a transplant. Exploring ways genetic therapies may help develop new treatments or find a cure for sickle cell disease. As new therapeutic targets are found, there is great interest in using genetic therapies to treat or even cure sickle cell disease.

One possible target is fetal hemoglobin, because increased fetal hemoglobin helps protect against the effects of hemoglobin S. Researchers are exploring whether gene editing can help reactivate expression of fetal hemoglobin genes already in blood cells.

They are also looking at whether they can introduce and express new hemoglobin-related genes and fetal hemoglobin genes in the blood cells of patients who have sickle cell disease. Read about recent results in NIH researcher presents encouraging results for gene therapy for severe sickle cell disease. Finding new ways to help sickle cell disease patients manage pain.

We are supporting research to help patients who have sickle cell disease manage chronic pain. This research includes testing whether inhaled vaporized cannabis can be added to their treatment plan to more effectively manage pain.

Guiding individual care for pain management during sickle cell disease crises. People who have sickle cell disease often rely on emergency department care during pain crises, and we are supporting the development of guidelines for pain treatment during these visits.

Improving stem cell transplants for adults who have sickle cell disease. We are investigating ways to decrease rejection of stem cell transplants in adults, which may help more people who have sickle cell disease become eligible for these procedures.

Investigating genetic markers as risk factors for acute chest syndrome. We are supporting the search for differences in the genes of people who have sickle cell disease that may make them more or less likely to develop acute chest syndrome. This tool may help doctors better diagnose and treat acute chest syndrome, a dangerous complication of sickle cell disease. Learning about pulmonary hypertension in adults who have sickle cell disease. We are interested in what leads some adults who have sickle cell disease to develop pulmonary hypertension.

Information from this research may reduce the risk of developing a serious complication. Testing new treatments to reduce pain crises in people who have sickle cell disease. We are supporting studies to see whether an inhaled treatment that contains HBI, a form of carbon monoxide, may be a safe and effective treatment for reducing pain crises and inflammation that can occur in sickle cell disease.

Understanding cognitive impairment in sickle cell disease. We are supporting studies into what leads to damage of the small blood vessels in the brains of patients who have sickle cell disease and the possible link to inflammation. Understanding how genes may affect how sickle cell disease patients experience pain. NHLBI-funded research has found that more frequent and severe pain crises may predict a worse outcome for people who have sickle cell disease.

We are interested in researching how genes may contribute to how people who have sickle cell disease experience different amounts and frequencies of pain. Trials at the NIH Clinical Center Sickle cell disease and kidney function tests This study will compare two different lab tests to measure kidney function in adults with sickle cell disease.

Participants in this study must be at least 18 years old and cannot have experienced a pain crisis in the last month or a change in treatment in the last 2 months.

This study is located in Bethesda, Maryland. Some people who have sickle cell disease are at greater risk for developing abnormal blood clots venous thromboembolism. This could be a blood clot in the leg called deep vein thrombosis or a clot that can break off and travel to the lung called a pulmonary embolism. This study will look at the blood of people who have sickle cell disease and venous thromboembolism, as well as healthy volunteers, to help researchers develop better treatments to prevent blood clots.

Participants in this study must be between 18 and 80 years old and be either a healthy volunteer or have sickle cell disease or trait. View more information about Blood clots and sickle cell disease. This study seeks to determine the best way to collect, store, and handle blood from newborns to help researchers improve future sickle cell disease therapies.

To participate in this study, you must be pregnant, 45 years old or younger, and willing to donate umbilical cord blood from your newborn. Newborns may be healthy or at risk for sickle cell disease or sickle cell trait. This study will look at whether a particular gene in people who have sickle cell disease increases the risk for more severe symptoms and complications.

To participate in this study, you must be between 18 and 80 and not have had a blood transfusion in the previous 8 weeks. This study aims to improve bone marrow transplant BMT procedures for older patients by using a low dose of radiation and two immunosuppressive drugs instead of chemotherapy.

This type of BMT procedure is described as nonmyeloablative because it does not destroy bone marrow. Participants in this study must be between 2 and 65 years old; have a severe congenital anemia, such as sickle cell disease or beta thalassemia; and have a sibling who is a well-matched stem cell donor. This study is interested in understanding pain crises and lung complications that occur in sickle cell disease patients and patients who have other red blood cell disorders. To participate in this study, you must be at least 2 years old with known or suspected sickle cell disease, sickle cell trait, or other red blood cell disorders.

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. The pain varies in intensity and can last for a few hours to a few weeks. Some people have only a few pain crises a year.