Teens with sickle cell disease may need to put some limits on their lives, but with the

help of doctors, friends, and family, they can manage the condition and live their lives to the fullest. ickle cell anaemia is a genetic (inherited) blood disorder in which red blood cells, which carry oxygen around the body, develop abnormally. Rather than being round and flexible, the sickle red blood cells become shaped like a crescent (or sickle). These abnormal red blood cells can then clog sections of blood vessels leading to episodes of pain which can be severe. These episodes are called a sickle cell crisis (also known as a vaso-occlusive crisis). They can last from a few minutes to several months, though on average most last five to seven days. The abnormal blood cells have a shorter life-span and are not replaced as quickly as normal; this leads to a shortage of red blood cells, called anaemia. Symptoms of anaemia include tiredness and breathlessness; especially after exercise. Read more about the symptoms of sickle cell anaemia. Complications Symptoms of sickle cell anaemia can have a significant impact on quality of life. Potential complications can be life-threatening. They include:

stroke where the supply of blood to the brain becomes blocked acute chest syndrome where the lungs suddenly lose their ability to breathe in oxygen; often as a result of infection increased vulnerability to infection pulmonary hypertension where the blood pressure inside the blood vessels that run from the heart to the lungs becomes dangerously high

However, following improvements in preventative treatment, many complications associated with sickle cell anaemia can be avoided and most people with the condition live much longer than previously. Read more about the complications of sickle cell anaemia. When to seek urgent medical advice Due to the risk of life-threatening conditions, it is important to look out for any signs or symptoms that the patient's health has suddenly deteriorated. These include:

high temperature (fever) of 38C (100.4F) or above severe pain that develops during a sickle cell crisis that cannot be controlled using over-thecounter painkillers, such as paracetamol or ibuprofen

breathing difficulties

Read more about when to seek urgent medical advice. Treating sickle cell anaemia Treatment helps reduce the severity and frequency of the symptoms of sickle cell anaemia and prevent complications. In some cases a person with sickle cell anaemia may require regular blood transfusions to help reduce the risks of complications. Read more about the treatment of sickle cell anaemia. What causes sickle cell anaemia? Sickle cell anaemia is caused by a genetic mutation that affects normal development of red blood cells. A genetic mutation is when the instructions found inside all living cells become scrambled in some way meaning one or more of the processes of the body do not work in the way they should. The mutation that causes sickle cell anaemia is often referred to as the sickle cell trait. It is estimated that around a quarter of a million people in England have the sickle cell trait; most of whom have African-Caribbean ancestry. Having the sickle cell trait itself will not cause a person to develop sickle cell anaemia. But if two people with the trait conceive a child then there is a one in four chance that child will be born with sickle cell anaemia. Read more about the causes of sickle cell anaemia. Screening Sickle cell anaemia can be diagnosed with a blood test. In England, all pregnant women are offered screening (either a blood test or questionnaire) to find out if they are a carrier. If they are a carrier, the baby's father should be offered a screening blood test. However, all babies born in the UK are tested for sickle cell anaemia as part of the heel-prick newborn screening test performed by the midwife. Anyone from at risk groups having a general anaesthetic should be tested for the sickle cell trait or thalassaemia because a general anaesthetic temporarily lowers the amount of oxygen in the blood, which could be dangerous for someone with the condition. Read more about screening for sickle cell anaemia. Sickle Cell Anemia Approximately 70,000-100,000 Americans have sickle cell anemia, the most common form of an inherited blood disorder that causes the production of abnormal hemoglobin, a protein that attaches to oxygen in the lungs and carries it to all parts of the body. Healthy red blood cells are flexible so that they

can move through the smallest blood vessels. In sickle cell anemia, 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. Sickle cells can get stuck and block blood flow, causing pain and infections. Complications of sickle cell anemia are a result of sickle cells blocking blood flow to specific organs, and include stroke, acute chest syndrome (a condition that lowers the level of oxygen in the blood), organ damage, other disabilities, and in some cases premature death. In order for you or your child to inherit sickle cell anemia, both parents must have either sickle cell anemia (two sickle cell genes) or sickle cell trait (one sickle cell gene); read more about sickle cell trait here. There are variations of sickle cell disease called sickle C or sickle thalassemia, which are serious conditions but are sometimes less severe. If you have sickle cell disease, you will pass one sickle cell gene to your children. Sickle Cell Trait Sickle cell trait is an inherited blood disorder that affects approximately 8 percent of African-Americans. 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. Rarely, extreme conditions such as severe dehydration and high-intensity physical activity can lead to serious health issues, including sudden death, in individuals with sickle cell trait. Learn More about Sickle Cell Trait The Problem With Sickled Cells

Risk Factors Sickle cell anemia is more common in certain ethnic groups, including:

People of African descent, including African-Americans (among whom 1 in 12 carries a sickle cell gene) HispanicAmericans from Central and South America People of Middle Eastern, Asian, Indian, and Mediterranean descent

Because sickle cell anemia symptoms can begin by four months of age, early diagnosis is critical. All newborns in the United States are now tested for the disease. Sickle cell anemia can be identified before birth by testing a sample of amniotic fluid or tissue from the placenta. People who carry the sickle cell gene can seek genetic counseling before pregnancy to discuss options. Signs and Symptoms Signs and symptoms of sickle cell anemia can be mild or severe enough to require frequent hospitalizations. They may include:

Anemia (looking pale)

Dark urine Yellow eyes Painful swelling of hands and feet Frequent pain episodes Stunted growth Stroke

Treatment There are no standard treatments that cure sickle cell anemia. However, there are treatments that help people manage and live with the disease. 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. Clinical trials provide access to experimental therapies for treating sickle cell anemia. ASH provides information on clinical trials for which you may be eligible. Researchers are looking at new drugs and also exploring the use of bone marrow transplants to treat sickle cell disease. 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. It is important for you to talk with your doctor if you believe you may have sickle cell anemia. If you carry the sickle cell trait, make sure you tell your doctor before getting pregnant as well. Depending on your condition, your doctor may refer you to a hematologist, a doctor who specializes in blood conditions. Sickle cell disease (SCD) is a serious, inherited condition affecting the blood and various organs in the body. It affects the red blood cells, causing episodes of sickling, which produce episodes of pain and other symptoms. In between episodes of sickling, people with SCD are normally well. Long-term complications can occur. Certain conditions can trigger sickling, such as cold, infection, dehydration or low oxygen. Good treatment, started early in life, can prevent complications. So, early diagnosis and specialist treatment are advised for SCD. Sickle cell trait is not the same as sickle cell disease. Sickle cell trait means you carry a sickle cell gene, but it does not normally cause illness. What is sickle cell disease? Sickle cell disease (SCD) is a serious group of conditions which are genetic (inherited). It affects the red blood cells in the blood. Sickle cell anaemia is the name of a specific form of SCD in which there are two sickle cell genes (see below). With SCD, the red blood cells have a tendency to go out of shape and become sickle-shaped (like a crescent moon) - instead of their normal disc shape. This can cause various problems - as described later. In between the episodes of illness, people with SCD feel well.

SCD is therefore a group of conditions that cause red cells to become sickle-shaped. Sickle cell trait is not the same as SCD or sickle cell anaemia. Sickle cell trait means you carry a sickle cell gene, but it does not normally cause illness. See separate leaflet called 'Sickle Cell Trait (Sickle Cell Carrier) and Sickle Cell Screening Tests' for more information. The rest of this leaflet will discuss SCD, which includes sickle cell anaemia and the other less common disorders. Related articles

Sickle Cell Trait (Sickle Cell Carrier) and Sickle Cell Screening Tests Jaundice

Who gets sickle cell disease? In the UK, about 12,500 people have SCD. It is more common in people whose family origins are African, African-Caribbean, Asian or Mediterranean. It is rare in people of North European origin. On average, 1 in 2,400 babies born in England have SCD, but rates are much higher in some urban areas - about 1 in 300 in some places. SCD is now one of the most common inherited conditions in babies born in the UK. What causes sickle cell disease? The cause is inherited. It is a change in the genes which tell the body how to make an important protein called haemoglobin. To get SCD, you need to have two altered haemoglobin genes, one from each parent. If you only have one of these genes, you will have sickle cell trait, which is very much milder.

The most common type of SCD is where you have two sickle cell genes (sickle cell anaemia). The medical shorthand for this is haemoglobin SS or HbSS. Other types of sickle cell disease involve one sickle cell gene plus another abnormal haemoglobin gene of a different type. These include: haemoglobin SC; haemoglobin S/beta thalassaemia; haemoglobin S/Lepore; haemoglobin SO Arab. The symptoms, diagnosis and treatment are similar for all the sickle cell conditions. How do the sickle cell genes cause SCD? Sickle cell genes affect the production of an important chemical called haemoglobin. Haemoglobin is located in red blood cells, which are part of the blood. Haemoglobin carries oxygen and gives blood its red colour. The sickle cell genes make the body produce abnormal haemoglobin called HbS. (Normal haemoglobin is called HbA.) HbS behaves differently from HbA. Under certain conditions, HbS makes the red blood cells change shape - instead of the normal doughnut shape, they become sickle-shaped, like a crescent moon. This is called sickling. Conditions which trigger sickling are: cold, infection, dehydration (lack of body water), low oxygen, and acid (acid is produced in hard physical exercise). What happens to the sickle cells? The sickle cells containing mostly HbS are harder and less flexible than normal red blood cells. So, they can get stuck in small blood vessels and block them. This can happen quite suddenly, causing various symptoms which are known as a sickle cell crisis (explained below). Repeated blockages can also lead to complications occurring. The sickle cells are destroyed more easily than normal red blood cells. This means that people with SCD tend to be short of red blood cells and have a moderate and persistent anaemia. A moderate anaemia is not usually a problem because the HbS (the different haemoglobin) carries oxygen well, and the body can compensate. However, you may get bouts of severe anaemia for various reasons. 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. A severe anaemia can make you very ill.

How is sickle cell disease diagnosed? The diagnosis is made by a blood test. The blood sample is analysed to see what type of haemoglobin is present in the blood (using a test called haemoglobin electrophoresis or other methods). In England, there is a screening programme to test pregnant women and newborn babies for SCD and other haemoglobin disorders. What are the symptoms of sickle cell disease? Symptoms of SCD come and go. Usually there are episodes (bouts) of symptoms but, in between episodes, you feel well. The reason that symptoms come and go is that the red blood cells can behave normally for much of the time - but if something makes too many of them sickle, the sickle cells cause symptoms. If there are severe and sudden symptoms due to sickling, this is called a sickle cell crisis. There is a lot of individual variation in symptoms - how many and how often you get them. Some people with SCD have frequent symptoms, while others have very few and their SCD is hardly noticeable. For most people, symptoms are somewhere in between these two extremes. Most people with SCD have a few episodes of sickle cell crisis each year. Symptoms usually begin after 3-6 months of age. (Before that age, the baby has a different haemoglobin, called fetal haemoglobin, which is not affected by the sickle cell gene.)