Sickle cell disease is a group of conditions in which red blood cells are not shaped as they should be. Red blood cells normally look like round discs. But in sickle cell disease, they're shaped like sickles, or crescent moons, instead. Show
The sickle shaped cells cause problems because:
The two most common symptoms of sickle cell disease are pain and anemia. The pain caused by sickle cell disease is called a pain crisis or vaso-occlusive crisis. In a pain crisis:
Sometimes pain can be managed at home. But someone with severe pain might need treatment in a hospital. Signs of anemia include:
People with sickle cell anemia may have jaundice (skin and whites of the eyes look yellow). This happens because the sickle-shaped red blood cells break down faster than normal cells. What Problems Can Happen?People with sickle cell disease can have problems that need care by a doctor right away, such as:
People with sickle cell disease are also at risk for problems such as leg ulcers, bone or joint damage, gallstones, kidney damage, and eye damage. Kids can have delayed growth and delayed puberty. The frequency and severity of symptoms and problems varies a lot between different people with sickle cell disease. What Causes Sickle Cell Disease?Sickle cell disease is a group of conditions passed down in families through their genes. The type of sickle cell disease a person has depends on the hemoglobin genes each parent passes down to them. Hemoglobin is the protein inside red blood cells that carries oxygen. Someone with sickle cell disease has at least one sickle cell gene. The other hemoglobin gene can be either another sickle cell gene or a gene for a different type of abnormal hemoglobin. The genes cause the body to make hemoglobin that causes the red blood cells to become sickle shaped. Here’s how sickle cell genes can run in families:
How Is Sickle Cell Disease Diagnosed?Sickle cell disease and sickle cell trait usually are found at birth with a blood test during routine newborn screening tests. A second blood test (called a hemoglobin electrophoresis) will confirm the diagnosis. Sickle cell disease also might be diagnosed before a baby is born with a test on the amniotic fluid or with a sample of tissue from the placenta. How Is Sickle Cell Disease Treated?Sickle cell disease is a lifelong condition. Treatment helps people with sickle cell disease avoid problems and stay active. A treatment plan includes:
A doctor may recommend other treatments for a child with sickle cell disease, such as:
Stem cell transplant (also called bone marrow transplant) is the only proven cure for sickle cell disease. Transplants are complex and risky but often very successful. They're currently an option only for some patients. Scientists and doctors are using clinical trials to develop new medicines to treat and prevent problems. They're also studying gene therapy as a potential cure for sickle cell anemia by changing or replacing the abnormal gene that causes it. When Should I Call the Doctor?Get emergency medical care right away if your child has any of these problems:
How Can Parents Help?When your child has sickle cell disease there is a lot you can do to help: Learn all you can about sickle cell disease. Tell all caregivers about the condition, how to care for your child, and signs of trouble to watch for. Take your child to all visits with their doctors and specialists. Keep track of any symptoms and share your concerns. Help your child avoid pain crisis triggers:
Make healthy choices. As a family, eat healthy foods and stay active. As your child gets older, make sure they know not to smoke, drink alcohol, or use drugs because these can cause pain and other problems. You also can find more information and support online at:
Sickle cell disease is an inherited blood disorder affecting red blood cells. Normal red blood cells contain hemoglobin A. People with sickle cell disease have red blood cells containing mostly hemoglobin S, an abnormal type of hemoglobin. These red blood cells become sickle-shaped (crescent-shaped), and have difficulty passing through small blood vessels. There are several different types of sickle cell disease; the most common types are homozygous sickle cell disease (SS disease), and sickle-cell beta thalassemia (Sß+ or Sß0 disease). Why would I want a primary care physician? How common is sickle cell disease? How common is sickle cell disease?Sickle cell disease is one of the most common diseases in the world, with approximately 300,000 babies being born each year with some form of the disease. Sickle cell disease is the most common disease detected by newborn screening efforts in the United States, as between 1 out of every 2500 and 1 out of every 2000 babies born in the U.S. has some form of the disease. Overall, it is estimated that approximately 100,000 persons in the U.S.are living with sickle cell disease. Who gets sickle cell disease?Sickle cell disease can affect persons of any racial or ethnic background. In the U.S., African-Americans are most likely to have the disease, though it is found among many different racial and ethnic groups, including whites, Hispanics, Native Americans, and Southeast Asians. What are the symptoms of sickle cell disease?Sickle cell disease causes a number of health complications for the affected individual. Persons with sickle cell disease are more susceptible to infections and strokes. Sickle cell disease can cause progressive organ damage throughout the body, including the lungs, kidneys, and joints. Some people with sickle cell disease may develop neurocognitive deficits. The hallmark symptoms of the disease, however, are the episodes of severe acute pain, called vaso-occlusive crises (or sickle cell crises), that the individual can experience. These pain episodes can affect any part of the body. These episodes can be as short as a few hours in length, or they may last for days on end. In addition to this severe, acute pain, the disease is the source of chronic pain as well (in the hips, back, or other joints, for example). Sickle cell disease can cause early mortality, and even though people with the disease are living longer, it is estimated that persons with the most severe form of the disease (sickle cell anemia) have a median life expectancy approaching 50 years. How do people get sickle cell disease?
Important facts about sickle cell disease
How can I prevent some of the complications of sickle cell disease?With the necessary support, people with sickle cell disease should be able to lead normal lives. Preventing Infections
Preventing CrisesThere is no way to always prevent sickling and sickle cell crises. Here are some gneeral ideas that may help:
More specific recommendations to reduce the number of sickle cell crises an affected person may experience include taking the following precautions:
Where can I find additional resources and information about sickle cell disease?The Sickle Cell Association of America advocates for the needs of persons with sickle cell disease. They have member organizations all across the U.S. Please see their website for more information: http://www.sicklecelldisease.org The Sickle Cell Information Center based in Atlanta, Georgia provides a wealth of news, information, and links to resources about sickle cell disease. Please see their website at: http://www.scinfo.org The National Heart, Lung, and Blood Institute of the National Institutes of Health is one of the federal organizations that oversees research related to sickle cell disease. See their website for news, education, and other information about the disease: http://www.nhlbi.nih.gov/new/sicklecell.htm If you live in the State of Maryland and are affected by sickle cell disease:A number of community-based organizations exist in Maryland that seek to provide education, information, and support for persons and families affected by sickle cell idsease. See the below links for more information: |