Which problems are associated with sickle cell anemia

People with sickle cell trait often don't have any signs of the disease, but they can pass the sickle cell gene to their children. Stem cell transplant also called bone marrow transplant is the only known cure for sickle cell disease. Transplants are complex and risky procedures, and for now are an option only for some patients. Scientists are studying gene therapy as a treatment for sickle cell anemia.

One day, it's hoped that doctors can stop the disease by changing or replacing the abnormal gene that causes it. But even without a cure, people with sickle cell disease can lead fairly normal lives if they follow their treatment plan. Their plan might involve:. Reviewed by: Robin E. Miller, MD. Larger text size Large text size Regular text size. What Is Sickle Cell Disease? Signs of anemia include: paleness, often seen in the skin, lips, or nailbeds tiredness dizziness being short of breath feeling lightheaded being irritable trouble paying attention a fast heartbeat People with sickle cell anemia may have jaundice skin and whites of the eyes look yellow.

People with sickle cell disease can have problems that need immediate care by a doctor, such as: Acute chest syndrome: Caused by inflammation , infection, and blockages of small blood vessels of the lung.

Signs include chest pain, coughing, trouble breathing, and fever. This can be life-threatening. It often occurs suddenly, when the body is under stress from infection, fever, or dehydration. The sickled cells stick together and block the flow of oxygen in the tiny vessels in the lungs.

It resembles pneumonia and can include fever, pain, and a violent cough. Splenic sequestration pooling. Crises are a result of sickle cells pooling in the spleen. This can cause a sudden drop in hemoglobin and can be life-threatening if not treated promptly. The spleen can also become enlarged and painful from the increase in blood volume. After repeated episodes, the spleen becomes scarred, and permanently damaged. Most children, by age 8, do not have a working spleen either from surgical removal, or from repeated episodes of splenic sequestration.

The risk of infection is a major concern of children without a working spleen. Infection is the major cause of death in children younger than age 5 in this population. This is another sudden and severe complication of people with sickle cell disease.

The misshapen cells can block the major blood vessels that supply the brain with oxygen. Any interruption in the flow of blood and oxygen to the brain can result in severe brain damage. If you have one stroke from sickle cell anemia, you are more likely to have a second and third stroke. Jaundice, or yellowing of the skin, eyes, and mouth. Jaundice is a common sign and symptom of sickle disease. Sickle cells do not live as long as normal red blood cells and, therefore, they are dying faster than the liver can filter them out.

Bilirubin which causes the yellow color from these broken down cells builds up in the system causing jaundice.

This is a painful obstruction of the blood vessels in the penis by sickle cells. If not promptly treated, it can result in impotence. How is sickle cell disease diagnosed? Along with a complete medical history and physical exam, you may have blood and other tests. How is sickle cell disease treated? Treatment may include: Pain medications. This is for sickle cell crises. Drinking plenty of water daily 8 to 10 glasses. This is to prevent and treat pain crises.

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. They happen more often in males than in females and usually appear from 10 through 50 years of age. A combination of factors cause ulcer formation, including trauma, infection, inflammation, and interruption of the circulation in the smallest blood vessels of the leg.

Leg ulcers can be treated with medicated creams and ointments. Leg ulcers can be painful, and patients can be given strong pain medicine. Management of leg ulcers could also include the use of cultured skin grafts. This treatment is provided in specialized centers. Bed rest and keeping the leg or legs raised to reduce swelling is helpful, although not always possible.

A stroke can happen if sickle cells get stuck in a blood vessel and clog blood flow to the brain. Stroke can cause learning problems and lifelong disabilities. Children who are at risk for stroke can be identified using a special type of exam called, transcranial Doppler ultrasound TCD. If the child is found to have an abnormal TCD, a doctor might recommend frequent blood transfusions to help prevent a stroke.

People who have frequent blood transfusions must be watched closely because there are serious side effects. For example, too much iron can build up in the body, causing life-threatening damage to the organs. Sickling of red cells can increase blood coagulation and induce an increased risk of blood clot in a deep vein DVT , or in the lung PE if the blood clot moves from the deep veins.

DVT and PE can cause serious illness, disability and, in some cases, death. PE requires immediate medical attention. Skip directly to site content Skip directly to page options Skip directly to A-Z link.

Section Navigation. Facebook Twitter LinkedIn Syndicate. Complications and Treatments of Sickle Cell Disease. Minus Related Pages. On This Page.