In the United States, most people with sickle cell disease are of African ancestry or identify themselves as black. Secure .gov websites use HTTPS People who have sickle cell disease and symptoms of acute chest syndrome should see their doctor or go to a hospital right away. Jenkins, T. Sickle cell anemia in the pediatric intensive care unit: novel approaches for managing life-threatening complications. It can also be used to help prevent or treat certain complications. However, you may get bouts of severe anaemia for various reasons. Treatment relieves pain, prevents infections, minimizes organ damage, and controls complications and can include medications, such as pain relievers and hydroxyurea (Hydrea), at times blood transfusions, and other options as needed. What are the possible complications of sickle cell disease, and how are they prevented or treated? Monitoring includes regular blood testing and dose adjustments. Some of the increased risk is directly related to the disease. Sometimes, a patient may be able to relieve priapism by: If a patient has priapism that lasts for four hours or more, he should go to the hospital to see a hematologist and urologist. Be aware that some medications such as hydroxycarbamide should be avoided if you are trying to conceive or become pregnant. Blood Disorders and Blood Safety Clinical stroke These should be taken with caution and only under your doctors direction because of the risk of addiction or overdose. Tell your doctor right away if you or your child is feeling very depressed. Bethesda, MD 20824-0105 What are the risks of hydroxyurea? . This blockage prevents enough oxygen from reaching liver tissue. It's important for healthcare providers, community workers, policy makers, and other SCD supporters to know that SCD affects diverse groups, so that all people with SCD can be properly diagnosed and treated. It affects the red blood cells, causing episodes of 'sickling', which produce episodes of pain and other symptoms. With SCD, the virus can upset the bone marrow, which then stops making blood for a while. For instance, children may qualify for an IEP. Symptoms of infection include fever, feeling generally ill, and pain in the affected part of the body. 2015 May 21125(21):3316-25. doi: 10.1182/blood-2014-11-607317. Hopefully, more people who have sickle cell disease will be able to receive a transplant in the future using these new methods. Delayed growth and puberty However, there are treatments that help people manage and live with the disease. But the pain often occurs in several places: A crisis can be brought on by various conditions: But often a person does not know what triggers, or causes, the crisis. A sickle cell crisis happens when many sickled cells stick together and pile up in the blood vessels. Early symptoms of sickle cell disease may include: The signs and symptoms of sickle cell disease will vary from person to person and can change over time. Call us at (800) 421-8453 Donate If it goes on for a long period of time, priapism can cause permanent damage to the penis and lead to impotence. Awareness of symptoms and early treatment are important. For infants, the first sickle cell disease visit should take place before 8 weeks of age. In this case, doctors try to treat the complication causing the pain. Screening for sickle cell anemia is mandatory at birth in the United States, allowing for early diagnosis and treatment. Because the disease runs in families, couples planning to have children can have genetic testing. The usual tests offered are chorionic villus sampling (CVS)or amniocentesis. 10. The treatment of sickle cell anaemia is a developing area of medicine. Some children with sickle cell disease will start to have problems early on, and some later. This form of kidney disease is a side effect of sickle cell disease. A type of chest physiotherapy called incentive spirometry also helps. Most or all the hemoglobin is abnormal, causing chronic anemia. Red blood cells that contain normal hemoglobin are disc shaped and flexible so that they can move easily through large and small blood vessels to deliver oxygen. If a person who has sickle cell disease cannot control the pain at home, he or she should go to a sickle cell disease day hospital/outpatient unit or an emergency room to receive additional, stronger medicines and intravenous (IV) fluids. 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. About 1 in 13 black or African American babies is born with sickle cell trait. This may lead to a need to urinate often and to have bedwetting or uncontrolled urination during the night. Sickle Cell Disease Resources for Patients Sickle Cell Disease Resources for Patients Get printable and shareable tips for managing and living with sickle cell disease, as well as information about treatments that you can discuss with your doctors. This is the national organization supporting hematologists (blood experts). A moderate anaemia is not usually a problem because the HbS (the different haemoglobin) carries oxygen well, and the body can compensate. Find fact sheets for managing and living with sickle cell disease & information about treatments that you can discuss with your doctor. Sickling in the bones of the hip and, less commonly, the shoulder joints, knees, and ankles can decrease oxygen flow and result in severe damage. Sickle cell traitis an inherited blood disorder that affects approximately 8 percent of African-Americans. Sickle cell disease (SCD) is a serious, inherited condition affecting the blood and various organs in the body. Congenital Heart Surgery Real Time Outcomes , Neuromuscular & Movement Disorders Program, Nicklaus Children's Pediatric Specialists, Nicklaus Children's Pediatric Virtual Care, Orthopedics, Sports Medicine & Spine Institute. This needs immediate treatment. If you only have one of these genes, you will have sickle cell trait, which is very much milder. It is important for you to talk with your doctor if you believe you may have sickle cell disease. The Impact Of Sickle Cell Anemia On Patients. If the baby has SCD, the result will be explained. Some ulcers will heal quickly, but others may not heal and may last for long periods of time. For example, if too much blood goes to the spleen, if too many red blood cells break down at the same time, or due to certain infections which stop blood cells being made. It may come on very suddenly or more gradually. Researchers study a new way to treat sickle cell disease, 2022 NHLBI Annual Sickle Cell Disease Research Meeting, Obesity, Nutrition, and Physical Activity, Meet these inspiring faces of sickle cell disease. Sickle cell anemia (SCA)the autosomal recessive disease that leads to sickling of oxygen-carrying red blood cellsaffects about 100,000 people in the U.S. per year. It is only used for severe SCD. Receive automatic alerts about NHLBI related news and highlights from across the Institute. Sickle cell anemia is a disorder in which the body produces abnormally shaped red blood cells. Education and guidance Some people with SCD have frequent symptoms, while others have very few and their SCD is hardly noticeable. The most severe form, affecting 65% of children with sickle cell disease. About 1 in every 365 black or African-American babies is born with sickle cell disease. 410-528-1555. Gallstones may be formed early on but may not produce symptoms for years. If you carry the sickle cell trait, make sure you tell your doctor before getting pregnant as well. There are various treatments to relieve or prevent unwanted erections. Symptoms usually begin after a few months of age. This helps doctors to decide whether your child needs blood transfusions for prevention. Because of this, the number of red blood cells is usually lower than normal. This is less likely in the UK and countries where donor blood is tested for infections. Women or couples may want to be tested for sickle cell trait before starting a family, especially if their family origins make sickle cell trait more likely. Liver complications 2002; 13(2): 154-168. Many doctors will stop prescribing penicillin after a child has reached the age of 5. Sickle cell anemia is a severe hemolytic anemia that results from inheritance of the sickle hemoglobin gene. Complications of sickle cell disease occur because the sickled cells block blood flow to specific organs. However, tests can still be done at a later stage. At times, you may feel sad or depressed. Spleen problemsThe spleen is an organ located in the tummy (abdomen), in the top left-hand side. They should also receive additional vaccines to prevent other infections. This can cause various problems - as described later. Your health care providers are there to help you, and you should feel comfortable asking questions. The body is always making new red blood cells to replace the old cells. A sickle cell test is a blood test used to determine if you have sickle cell disease (SCD) or sickle cell trait. This problem makes people who have sickle cell disease more likely to get severe infections. If iron levels get high, you may need treatment called chelation, which helps the body get rid of excess iron. People with SCD have abnormally shaped red blood cells. Patients can be referred for cognitive testing. Official websites use .gov Detachment of the retina can occur. Unlike sickle cell disease, in which patients have two genes that cause the production of abnormal hemoglobin, individuals with sickle cell trait carry only one defective gene and typically live normal lives without health problems related to sickle cell. Contraception.The choice of contraceptive method needs to be considered carefully. However, if an active infection is suspected, you will need a different antibiotic in a higher dose. You can read more about crizanlizumab for sickle in our editorial on 'What does the new treatment for sickle cell disease mean for sickle cell patients?'. Eye examinations An IEP is a plan that helps students reach their educational goals. Sickle cell trait is not the same as sickle cell disease. What are the risks? See how NHLBI-led research is paving the way to a cure for sickle cell disease. This is done using a sample of amniotic fluid,the liquid in the sac surrounding a growing embryo, or of tissue taken from the placenta, the organ that attaches the umbilical cord to the mothers womb. Sickle-cell anemia (SCA) is a disease that links biochemistry, pathology, natural selection, population . AACN Clinical Issues. Red blood cell transfusions Read how the NHLBI Implementation Science Branch helps translate genomic research and therapies into real-world practices. Stroke or brain injuryThis is a serious complication and affects about 1 in 10 children or teenagers with SCD. Avoid situations that may set off a crisis. Ablood transfusionhelps to increase the number of red blood cells and provides normal red blood cells that are more flexible than red blood cells with sickle hemoglobin. Sickle cell disease causes the kidneys to have trouble making the urine as concentrated as it should be. The various symptoms that can occur if you have SCD include: These are also called a pain crisis or a vaso-occlusive crisis. A stroke can be fatal. The red blood cells in a transfusion have normal hemoglobin in them. 2022 Nicklaus Children's Hospital. To stay up to date on the latest news, events, and information from the NHLBI, subscribe to receive our email alerts. If a patient is having symptoms of stroke,call 9-1-1. The retina is the light-sensitive layer of tissue that lines the inside of the eye and sends visual messages through the optic nerve to the brain. The St. Jude Hematology Program offers you two ways to obtain literature about sickle cell disease and other hematological disorders. Both boys and girls can inherit sickle cell trait, sickle cell disease, or normal hemoglobin. . People who have sickle cell disease and their caretakers should discuss with their doctors whether screening makes sense for them. Medicines are given to prevent many of the complications, but they still can happen. So, they can get stuck in small blood vessels and block them. Doctors have different approaches to screening for pulmonary hypertension. If a person has sickle cell disease, it is present at birth. Sickle cell disease; NICE CKS, November 2016 (UK access only), Sickle cell acute painful episode; NICE Clinical Guideline (June 2012), Management of Sickle Cell Disease in Pregnancy; Royal College of Obstetricians and Gynaecologists (August 2011), Guidelines on red cell transfusion in sickle cell disease Part II - indications for transfusion; British Committee for Standards in Haematology (2016), Sickle cell and thalassaemia screening: programme overview; Public Health England, 2017. Registered in England and Wales. Early diagnosis and regular medical care to prevent complications also contribute to improved well-being. As the nurse, you must be familiar with the pathophysiology, signs and symptoms, sickle cell crisis, and nursing interventions. Conditions which trigger sickling are cold, infection, lack of fluid in the body (dehydration), low oxygen, and acid (acid is produced in hard physical exercise). With children, the spleen sometimes enlarges quickly and causes sudden severe anaemia. You do not need to make an appointment for this service. Like all people, you and your child should strive to maintain a healthy lifestyle that includes: To prevent and control complications, your doctor may recommend the following: If your child attends daycare, preschool, or school, speak to his or her teacher about the disease. ASH appointed 61 clinical experts, five methodologists and 10 patient representatives to review evidence and form recommendations on SCD. Patient Education Patient Education Sickle cell disease (SCD) comprises a group of inherited blood disorders in which the red blood cells of an affected individual become inflexible, sticky, and abnormally shaped like a sickle, a crescent-shaped farm tool. Some people find counseling or antidepressant medicines helpful. Severe anemia Anyone who has sickle cell anemia is at risk for stroke, including babies. Heart disease When you exercise, drink lots of fluids. About 10 percent of children with sickle cell disease develop stroke. This damage is a condition called avascular or aseptic necrosis. Signs and symptoms of sickle cell disease can be mild or severe enough to require frequent hospitalizations. Acute chest syndrome is very serious and, if it is suspected, you should be treated urgently in hospital. This period has been shown to be associated with increased hospital admissions and medical problems. As a rule, SCD cannot be cured, so lifelong treatment and monitoring are needed. This can be quite brief but if an erection does not subside within one hour then urgent treatment is needed. Treatment usually involves: People with SCD should try to avoid any potential triggers for a sickle cell crisis as much a possible. Blood transfusion is a useful treatment for some situations, such as acute chest syndrome or severe anaemia. It affects the red blood cells in the blood. Anaemia is a lack of haemoglobin in the blood. In sickle cell disease, the hemoglobin is abnormal, causing the red blood cells to be rigid and shaped like a "C" or sickle, the shape from which the disease takes its name. This is one cause of sudden and severe anaemia, when your child becomes suddenly ill. Ablood and bone marrow transplantis currently the only cure for some patients who have sickle cell disease. A prenatal test finds out whether the unborn baby actually has SCD. The current recommendations are that women who are undergoing tests for infertility and women who are receiving infertility treatment should be tested for sickle cell trait. Which statement is the appropriate patient education for the nurse to provide? In the UK, all newborn babies are offered a bloodspot test at 5-8 days after birth. Children aged 3 years should be offered these scans. A national health education program that aims to bring greater visibility to blood diseases and disorders like anemia, sickle cell disease and others, their diagnosis, treatment and management, and blood safety by translating research for patients and professionals. They may need oxygen therapy and a blood transfusion. The sickle shaped red blood cells also get stuck in blood vessels, blocking blood flow. Blood. When the test results are abnormal, regular blood transfusions can decrease the chances of having a stroke. Medications Hydroxyurea (Droxia, Hydrea, Siklos). Every state in the United States, the District of Columbia, and the U.S. territories require that every baby be tested for sickle cell disease as part of a newborn screening program. Such programs should involve the pediatric and adult care teams. If sickle cells block blood vessels in the brain, this may cause a stroke. People who do not know whether they carry an abnormal hemoglobin gene can ask their doctor to have their blood tested. Therefore, always tell your anaesthetist, surgeon and other healthcare staff that you have SCD, so that precautions can be taken to reduce the risk of sickling. Good treatment, started early in life, can prevent complications. When available, use of materials was unrelated to satisfaction and perceptions of patient problems for most topics. The shift in care usually occurs at the same time that adolescents are undergoing many changes in their emotional, social, and academic lives. As people who have sickle cell disease get older, they often develop more organ damage and more disabilities. The rest of this leaflet will discuss SCD, which includes sickle cell anaemia and the other less common disorders. Let your loved ones know how you feel and what you need. . So, always see a doctor quickly if your vision reduces suddenly in any way. They have an annual meeting at which many sickle cell . 4,5 Pregnant women shouldnotuse hydroxyurea. These problems can cause visual impairment or loss. Living with sickle cell can be challenging, but it's important to remember that you're not alone. You may not deal with these in your lab or was not exposed to them in your MLT training, but you need to know them. Antibiotics. Sickle cells can block blood flow to an area of the brain. Stem cell transplants are associated with significant risks and are appropriate only for some patients with severe forms of sickle cell disease and closely matched donors such as a family member. Sudden weakness on one side of your or your child's body. Open Menu. You can ask your doctor for a sickle cell test. This is because studies have not given clear information as to when and how a patient should receive the screening. (Normal haemoglobin is called HbA.) ). Therefore, you will normally be offered regular checks on your heart, lungs and kidney function. People who do not know whether they make sickle hemoglobin or another abnormal hemoglobin, such as SC, S thalassemia, and SE, can find out by having their blood tested. The intrauterine contraceptive device (sometimes called 'the coil') may cause particularly heavy painful periods. As in other chronic diseases, people who have sickle cell disease may feel sad and frustrated at times. Provide . All Rights Reserved. People who have sickle cell disease and their families should not be afraid to ask questions. This leads to lower hemoglobin levels as well. Sickle cell diseases are a group of inherited genetic disorders characterized by a predominance of hemoglobin S (HbS) which results in a chronic hemolytic anemia, increased susceptibility to infections, end-organ damage and episodes of vaso-occlusion causing both acute and chronic pain. The UK's Sickle Cell Society and many health professionals encourage awareness of sickle cell trait and early testing. Hemoglobin gets broken down into a substance calledbilirubin. Sickle cell kidney disease happens because sickle-shaped red blood cells block normal blood and oxygen flow to the kidneys and inside the kidneys. Blood and urine testing These pain attacks can occur without warning, and a person who has them often needs to go to the hospital for effective treatment. You can be shown how to recognise symptoms (in yourself or your child), so that treatment can be started quickly. But people with sickle cell trait are carriers of a defective hemoglobin S gene, so they can pass it on when they have a child. Make and keep regular appointments with your doctor or medical team. In addition, nurses are critical to patient and family education, which should include SCD management, how to recognize signs and symptoms of severe complications, and when to notify their provider. Stem cell transplant is the only available treatment that can cure SCD. There are a number of ways in which the liver may be injured in sickle cell disease. Box 30105 Pulmonary hypertension A plan for what to do and where to get care if a patient has a fever, pain, or other signs of sickle cell disease complications that need immediate attention, Hours when medical staff are available and contact information to use when people who have sickle cell disease or caretakers have questions, How sickle cell disease is inherited and the risk of having a child with sickle cell disease. A normal hemoglobin level is around 12 to 15 g/dL. There may be symptoms of stroke such as weakness of the face or limb, or speech difficulty. People who carry the sickle cell gene can seek genetic counseling before pregnancy to discuss options. There are a number of different treatments which help to prevent sickling episodes, or prevent related problems such as infection. This causes the blood cells to have shorter lifespans and block blood vessels, resulting in anemia, fatigue, inadequate blood supply, and painful vaso-occlusive crises. Children with sickle cell trait and malaria can clear the infection much quicker than those without sickle cell trait. Don't smoke. What does the new treatment for sickle cell disease mean for sickle cell patients? Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical conditions. Most sickle cell disease transplants are currently performed in children who have had complications such as strokes, acute chest crises, and recurring pain crises. Researchers are looking at new drugs and also exploring the use ofbone marrow transplantsto treat sickle cell disease. All rights reserved. Crizanlizumab is a new intravenous treatment option that can be taken on its own or alongside hydroxycarbamide. SCD may cause changes to blood vessels in the back of the eye (retina); this is called retinopathy. An eye doctor, or ophthalmologist, should examine a patients eyes every 1 to 2 years from the age of 10 on. Taking pain medicines daily may help to decrease the pain. Joint complications Urgent treatment may be needed. Would SCD make my baby ill during pregnancy?No; it does not affect the baby while in the womb. Depending on your condition, your doctor may refer you to a hematologist, a doctor who specializes in blood conditions. This corrects anaemia and reduces the effects of sickling. Compared with pediatrics, there are often fewer adult sickle cell disease programs available in a given region. Fever is a medical emergency in sickle cell disease. The diagnosis is made by a blood test. When symptoms develop, they may include: If problems continue or recur, a person may need surgery to remove the gallbladder. For teenagers, puberty may start about 2-3 years later than average. There are effective treatments that can reduce symptoms and prolong life. If priapism lasts for more than four hours, emergency medical care should be sought to avoid complications. Crizanlizumab for preventing sickle cell crises in sickle cell diseaseThe National Institute for Health and Care Excellence (NICE) has recommended that specialist teams can apply to offer crizanlizumab to some patients over 16 as an option for preventing sickle cell crises. The blood sample is analysed to see what type of haemoglobin is present in the blood. African Americans are especially at high risk, with SCA occurring in 1 in 365 births. Sickle cell intrahepatic cholestasis is an uncommon but severe type of liver damage that occurs when sickled red cells block blood vessels in the liver. Learn about ongoing research from NHLBI labs in the Sickle Cell Branch. Figure A shows normal red blood cells flowing freely in a blood vessel. When is the best time to have a test?If you are pregnant, the ideal time to have a sickle cell blood test for yourself is before you are 10 weeks pregnant. If the result shows that you carry a sickle cell gene then a test is also offered to the baby's father (if possible). When taken daily, hydroxyurea has been found to decrease the number and severity of pain episodes. These visits will help to reduce the number of acute problems that need immediate care. With a tap, users can record their sites of pain and the level of severity in addition to the date, time, and attempted intervention. Males who have sickle cell disease can have unwanted, sometimes prolonged, painful erections. Some patients may have fewer hospital visits due to sickle cell crises, including acute chest syndrome, if they are taking L-glutamine oral powder, compared with patients who are not taking this medicine. The medical shorthand for this is haemoglobin SS (or HbSS). The bloodspot test now includes testing for SCD throughout the UK. Chronic pain often comes with feelings of depression and anxiety. Unfortunately, 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. This can make the spleen swell up suddenly with blood - in effect, it is like losing blood into the spleen. Most of the signs and symptoms of sickle cell disease are related to complications of the disease. Travel: if you go to a country where there is malaria. Transcranial Doppler (TCD) ultrasound screening People who have sickle cell disease have an abnormal protein in their red blood cells. Acute chest syndrome can start a few days after a painful sickle crisis. Official websites use .gov If this happens, you will have a sudden reduction in your vision. These possibilities should be discussed with the primary care doctor, a blood specialist called a hematologist, or a genetic counselor. Your medical team can help prevent complications and improve your quality of life. Most children who have sickle cell disease are pain-free between crises, but adolescents and adults may also suffer with chronic, ongoing pain. However, some clinicians have biases against opioid use. Phone: 314-833-6751 Mailing Address Sickle Cell Association P. O. 800-421-8453. Symptoms include pain and problems with walking and joint movement. When a child has sickle cell disease, early diagnosis is important to better prevent complications. Its use is limited by side-effects of the procedure and the availability of suitable donors. With less oxygen, the abnormal hemoglobin S gene can cause rigid, non-liquid protein strands to form within the red blood cell. . Some ulcers come back after healing. You will be given the results about six weeks later. Sometimes chronic pain results from a complication, such as a leg ulcer or aseptic necrosis of the hip. The child is awake during the TCD exam. CORONAVIRUS ALERT: Click here for the latest information. This can stop or slow blood flow, and prevent oxygen from getting to tissues. For details see our conditions. Hydroxycarbamide (also called hydroxyurea), taken regularly, may help to reduce the amount of symptoms such as pain episodes and acute chest syndrome. During a sickle cell crisis, your child can have severe pain in the chest, stomach, arms, and legs. Sickle cell anaemia is the name of a specific form of SCD in which there are two sickle cell genes (see below). The VOICE Crisis Alert mobile a sickle cell disease crisis tracking and communicating app with useful features that are easy to use. Doctors use blood transfusions in sickle cell disease for complications that cause severe anemia. Sickle cell disease is more common in certain ethnic groups, including: Because sickle cell disease symptoms can begin by four months of age, early diagnosis is critical. You may wish to have tests for your partner and unborn baby, to find out whether your baby could inherit SCD. The test is done by taking a small spot of blood from the baby's heel. A person may need pain medicines, surgery, or joint replacement if symptoms persist. If a joint is severely affected, surgery may be needed. Write out and submit a well written paragraph (minimum) for each of these topics . Doctors recommend regular or ongoing blood transfusions for patients who have had an acute stroke, since transfusions decrease the chances of having another stroke. Don't drink a lot of alcohol. Get any medical and lab tests or immunizations that your doctor orders. Some children with SCD take longer than usual to gain control of their bladder at night, so may wet the bed (nocturnal enuresis). Patient does not provide medical advice, diagnosis or treatment. 2005;84(6):363-76. doi:10.1097/01.md . United States. A blood and bone marrow transplant is currently the only cure for sickle cell disease, and only a small number of people who have sickle disease are able to have the transplant. Signs and symptoms of sickle cell disease can be mild or severe enough to require frequent hospitalizations. Treatments might include medications and blood transfusions. The importance of regular medical visits, screening tests, and evaluations. These conditions can be life-threatening, and the patient will need careful monitoring and treatment in the hospital. Hemoglobin SD and hemoglobin SE are much less common. Several medical centers are researching new sickle cell disease 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. Chronic transfusion Adults may be able to enroll in vocational rehabilitation programs that can help them with job training. The symptoms can include chest pain, high temperature (fever) and shortness of breath. If the specialist is a long way from your home then some of your treatment may be with a more local hospital or doctor - but the local doctors should get advice from your specialist. Sickle cell disease (SCD) is a serious group of conditions which are inherited (genetic). We have expertise in treating children and educating families on hundreds of different conditions. Severe anemia in an infant or child with sickle cell disease may be a result of events: Splenic sequestrationcrisis and aplastic crisis most commonly occur in infants and children who have sickle cell disease. The most common site of damage is the retina, where blood vessels can overgrow, get blocked, or bleed. This can happen quite suddenly, causing various symptoms which are known as a sickle cell crisis (explained below). 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