People with a faulty gene from only one parent do not develop sickle cell disease, but instead have what is known as the sickle cell trait. These individuals usually do not show any symptoms of sickle cell, but can still pass the condition on to their biological children. Red blood cells containing faulty hemoglobin can become misshapen and rigid, making it difficult for them to pass through small blood vessels, slowing or blocking blood flow.
This in turn can compromise oxygen delivery to different tissues and organs, causing damage and inflammation. Blood vessel blockage also can result in episodes of sudden and severe pain, known as vaso-occlusive crises VOCs. Sickled red blood cells usually break apart and die much quicker than healthy rounded red blood cells.
Because these cells are destroyed faster than they are made, people with sickle disease often have a shortage of red blood cells — a condition known as anemia, the most common symptom of the sickle cell. People with sickle cell also may experience swelling in the hands and feet, and vision problems.
In addition, their growth can be delayed, and they often are more prone to infections. Sickle cell disease is diagnosed with a blood test that looks for abnormal hemoglobin proteins. In many countries, including the U. These prenatal tests look for the presence of the mutated HBB gene instead of defective hemoglobin proteins.
Always consult your health care provider for a diagnosis. Many states routinely screen newborns for sickle cell so that treatment can begin as soon as possible.
Early diagnosis and treatment can reduce the risk of complications. Hemoglobin electrophoresis is a blood test that can determine if a person is a carrier of sickle cell, or has any of the diseases associated with the sickle cell gene. Your doctor will consider your age, overall health and other factors when determining the best treatment for you.
Early diagnosis and prevention of complications is critical in sickle cell disease treatment. Treatment aims to prevent organ damage including strokes, prevent infection, and treat symptoms. Treatment may include:. Any and all major organs are affected by sickle cell disease. The liver, heart, kidneys, gallbladder, eyes, bones, and joints can suffer damage from the abnormal function of the sickle cells and their inability to flow through the small blood vessels correctly.
Problems may include the following:. Sickle cell disease is a life-long condition. Although the complications of sickle cell disease may not be able to be prevented entirely, living a healthy life-style can reduce some of the complications.
It is important to eat a healthy diet with lots of fruits, vegetables, whole grains, and protein, and drink lots of fluids. Do not take decongestants because they cause constriction of blood vessels and could trigger a crisis. Other factors that may trigger a crisis include high altitudes, cold weather, swimming in cold water, and heavy physical labor.
Avoid infections by getting an annual flu shot, washing your hands frequently, avoiding those who are sick, and getting regular dental exams.
Health Home Conditions and Diseases. What causes sickle cell disease? Sickle cell is an inherited disease caused by a defect in a gene. A person will be born with sickle cell disease only if two genes are inherited—one from the mother and one from the father. A person who inherits just one gene is healthy and said to be a "carrier" of the disease.
A carrier has an increased chance of having a child with sickle cell disease if he or she has a child with another carrier. What are the risk factors for sickle cell disease? Having a family history of sickle cell disease increases your risk for the disease. In the United States, it mainly affects African Americans. What are the symptoms of sickle cell disease? Symptoms and complications may include: Anemia.
Because sickled cells are short-lived or destroyed, there are less red blood cells available in the body. This results in anemia. Severe anemia can make you feel dizzy, short of breath, and tired.
Pain crisis, or sickle crisis. This occurs when the flow of blood is blocked to an area because the sickled cells have become stuck in the blood vessel. The pain can occur anywhere, but most often occurs in the chest, arms, and legs. Infants and young children may have painful swelling of the fingers and toes. Interruption in blood flow may also cause tissue death. Acute chest syndrome. This occurs when sickling occurs in the chest. This can be life-threatening. You may be able to return home once your pain is under better control.
You may need to be admitted to the hospital to fully control an acute pain crisis. Adopt a healthy lifestyle Get regular physical activity. You may tire easily, so be careful to pace yourself and avoid very strenuous activities. Choose heart-healthy foods , including limiting alcohol. Drink extra water to avoid dehydration. Quit smoking. Although these resources focus on heart health, they include basic information about how to quit smoking. Extreme heat or cold, as well as abrupt changes in temperature, are often triggers.
When going swimming, ease into the water rather than jumping right in. 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. Participants will have a physical exam and receive standard medical care for sickle cell disease, including routine follow-up tests and procedures.
This study is located in Washington, D. This study is testing new ways to improve a stem cell transplant procedure that involves a donor who is not a complete match, called a partial match. To participate in this study, you must be at least 18 years old and have both severe sickle cell disease and a donor who is a partial match. This study is exploring how to improve bone marrow transplant procedures so the body better accepts donor stem cells. To participate in this study, you must be at least 4 years old, have sickle cell disease, and have a stem cell donor.
This study will give a second transplant to people who have sickle cell disease and whose disease has returned but still have some donor cells in their body. Participants in this study must be at least 4 years old and had a transplant but the disease returned, and their donor relatives. View more information about Repeat blood stem cell transplant. This study is collecting medical information from health exams and routine tests and procedures to see whether participants may be able to enroll in other studies on blood disorders.
Participants in this study must be at least 8 years, with or without a blood disorder. This study will evaluate the safety and effectiveness of a medicine for sickle cell disease, called AG mitapivat sulfate to determine whether it improves the health of people who have sickle cell disease.
Participants in this study must be between 18 and 70 years old. View more information about Sickle cell disease medicine. This study will look at whether changes in blood and urine can be used to monitor whether acute kidney injury has developed as a result of a pain crisis or acute chest syndrome.
Participants in this study must be between 1 and 25 years old and be admitted with a pain crisis or acute chest syndrome. This study is located in Birmingham, Alabama. This study is comparing long-term outcomes for patients who receive blood and bone marrow transplants and those who receive standard treatment with medicines.
Participants also have an option of contributing blood samples to be stored for future research. Participants must be 15 to 40 years old and have severe sickle cell disease.
This study is located in Madison, Wisconsin. View more information about Bone Marrow Transplantation vs. This study aims to understand whether sickle cell disease or thalassemia affects the processes that naturally increase blood flow in the brain when people experience stress. Researchers will measure blood flow using brain magnetic resonance imaging MRI. Participants in this study must be at least 7 years old and have sickle cell disease or thalassemia. Healthy volunteers can also participate.
This study is located in Los Angeles, California.
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