|Volume 6 Issue 341 Published - 14:00 UTC 08:00 EST 6-Dec-2004 Next Update - 14:00 UTC 08:00 EST 7-Dec-2004||Editor: Susan K. Boyer, RN
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Information for patients: What is sickle cell anemia?
narrow blood vessels, blocking the flow of blood.
Anemia is a shortage of red blood cells in your blood. In sickle cell anemia, this shortage of red blood cells occurs because sickle cells do not last very long. It is hard for your body to make new red blood cells fast enough to keep up. Normal red blood cells last about 120 days in the bloodstream. Sickle cells die after only about 10 to 20 days.
Sickle cell trait is different from sickle cell anemia. A person with sickle cell trait does not have the disease but carries the gene that causes the disease. Persons with sickle cell trait can pass the gene to their children. For more information on sickle cell trait, see the section on "What Causes Sickle Cell Anemia."
Sickle cell anemia is a serious disease and there is no universal cure. Bone marrow transplantation offers a cure, but very few patients have matched donors. Some patients also do not want bone marrow transplants because of the risks involved. Over the past 30 years, doctors have learned a great deal about the disease. They know what causes it, what it does to your body, and how to treat many of the complications. Today, with good health care, many people with the disease:
Other Names for Sickle Cell Anemia
What Causes Sickle Cell Anemia?
People with sickle cell anemia inherit two genes, one from each parent, that are variant (different from normal). The variant genes are call sickle cell genes.
The sickle cell genes tell the body to make the variant hemoglobin (hee-muh-glow-bin) that results in deformed red blood cells. Hemoglobin is the protein in red blood cells that carries oxygen to all parts of the body.
Children who inherit sickle cell genes from both parents will have sickle cell anemia. Children who inherit the sickle cell gene from only one parent will not have the disease. They will have sickle cell trait. Persons with sickle cell trait:
If each parent carries one sickle hemoglobin gene (S) and one normal gene
(A), with each pregnancy, there is a 25 percent chance of the child's inheriting
two SS genes and having sickle cell anemia; a 25 percent chance of inheriting
two AA genes and not having the disease; and a 50 percent chance of being
an unaffected carrier (AS) like the parents.
Who Gets Sickle Cell Anemia?
Sickle cell anemia affects millions of people throughout the world.
Sickle cell anemia is common in people whose families come from:
What Are the Signs and Symptoms of Sickle Cell Anemia?
The signs and symptoms of sickle cell anemia are different in each person. Some people have mild symptoms. Others have very severe symptoms and are often hospitalized for treatment.
The most common symptoms or signs are related to:
How is Sickle Cell Anemia Diagnosed?
Screening tests are done on newborn infants in most States. These tests can show if the newborn infant has sickle cell anemia or carries the sickle cell trait.
Early diagnosis of sickle cell anemia is very important so that children who have sickle cell anemia can get proper treatment.
Forty-four (44) States, the District of Columbia, Puerto Rico, and the Virgin Islands currently screen all newborns for sickle cell anemia. Screening is available by request in the other six (6) States. This screening includes a simple blood test for sickle cell anemia on all newborn infants. This test uses blood from the same blood samples as other routine newborn screening tests.
If the first test shows that the sickle hemoglobin is present, a second blood test is done to confirm the diagnosis. These tests also tell whether the child carries the sickle cell trait.
It is also possible to identify sickle cell anemia before birth. This is done by getting a sample of amniotic fluid or tissue taken from the placenta. This test can be done as early as the first few months of pregnancy.
How is Sickle Cell Anemia Treated?
Although there is no cure (other than bone marrow transplantation) for sickle cell anemia, doctors know a great deal about how to treat it.
People with sickle cell anemia need regular medical care. There are doctors and clinics that specialize in treating people with the disease.
The goal of treatment is to relieve pain, prevent infections, and control complications if they occur. The treatments include:
Painful crises are the leading cause of emergency room visits and hospitalizations. The usual treatment for acute pain crises is giving pain-killing medications and increasing fluids. The pain-killing medicines most often used are:
In adult patients with severe disease, doctors may give hydroxyurea to reduce the frequency of painful crises. This drug is used only for prevention and not to treat acute pain. Given daily, it reduces the frequency of painful crises and of acute chest syndrome in sickle cell anemia patients. Patients taking the drug may also need fewer blood transfusions. Hydroxyurea must be monitored carefully because it can cause a lowering of the white blood count if the dose is too high. Many questions about its use and effects remain unanswered. Hydroxurea is not the final solution in drug therapy, but it is a promising start. It is not yet approved for use in children.
Infection is a major complication of sickle cell anemia. In fact, pneumonia is the leading cause of death in children with the disease. Other infections common in persons with the disease include meningitis, influenza, and hepatitis.
To prevent infections in babies and young children, treatment methods include:
If a child with sickle cell anemia shows early signs of an infection, such as fever, it is very important to get treatment right away.
Adults with sickle cell anemia should also have a flu shot every year. They should also be vaccinated for pneumonia.
Preventing Eye Damage
Since children may develop damage to the blood vessels in the back of their eyes, you should ask your doctor about regular checkups with an eye doctor who specializes in diseases of the retina. The retina is a thin layer of tissue inside the back of the eye.
Blood transfusions are used to treat worsening anemia and sickle cell complications. A sudden fall in the patient's blood count resulting from infection or spleen enlargement is a common reason for a transfusion. Some, but not all, patients need transfusions to prevent life-threatening events such as stroke or pneumonia.
Most complications of sickle cell anemia are treated as soon as they happen.
Acute chest syndrome is a frequent cause of death in children and adults with sickle cell anemia. Treatment usually requires hospitalization and may include the use of oxygen therapy, transfusions, antibiotics, and pain medication.
Hand-foot syndrome is an early complication seen in sickle cell anemia. It starts at less than 1 year of age. Treatment includes the use of pain medication and fluids.
Leg ulcers may be treated with cleansing solutions and zinc oxide. Skin grafts may be needed if the condition continues. Ulcers on the ankle are painful, and patients may be given strong pain medication. Bed rest and keeping the leg raised to reduce swelling are useful, though not always possible.
Regular Health Care for Children
Children with sickle cell anemia should get regular health care just as children without the disease. They need to have their growth checked and to get the usual shots that all children receive.
Up to age 2, children with sickle cell anemia should see the doctor every 2 or 3 months. After age 2, children should see the doctor at least every 6 months. These visits are good chances for parents to talk with their child's health care provider and ask questions about the child's care.
Penicillin is generally given to all children with sickle cell anemia until age 5.
Today, research studies on sickle cell anemia are looking at new medications, bone marrow transplants, and gene therapy. The hope is that these studies can provide new treatments and find a possible cure for sickle cell anemia. Researchers are also looking at finding a way to predict the severity of the disease.
Living with Sickle Cell Anemia
If you have sickle cell anemia, it is important to take good care of yourself and see your doctor regularly.
Things you need to do to take care of your health include:
If your child has sickle cell anemia, you should learn as much about the disease as possible. This will help you recognize early signs of problems, such as fever or chest pain, and seek early treatment. Sickle cell centers and clinics can provide information and counseling to help you handle the stresses of coping with this serious chronic disorder.
Make sure that your child gets daily penicillin up to age 5 to prevent serious infections. Children should also have a flu shot every year and a vaccination against pneumonia. Keep a thermometer on hand and know how to use it. Call a doctor if you child has a temperature above 101 degrees Fahrenheit (38.5 degrees Celsius). Talk to your child's doctor about your child's treatment and the best ways to help keep your child as healthy as possible.
School-aged children should participate in physical education. Teachers should allow children with sickle cell anemia to rest if they tire and to drink fluids after exercise. Children and teenagers may also play competitive sports. Coaches must watch for signs of fatigue and allow the athlete to rest.
Education and job training
If you have sickle cell anemia, it is important that you complete your education. You should not seek jobs that require strenuous work, long work hours, and exposure to extreme temperatures. Getting a good education and advanced job training "opens the door" to the kinds of jobs that are ideal for those who cannot do strenuous work.
People who are planning to have children should find out if they have sickle cell trait (carry the sickle cell gene). If both have sickle cell trait, they should get genetic counseling. The counselor can tell what the chances are that their child will have the sickle cell trait or sickle cell anemia. Accurate diagnostic tests and information are available from health departments, neighborhood health centers, medical centers, and clinics that care for people with sickle cell anemia.
With good health care, many people with sickle cell anemia are in reasonably good health much of the time and can live productive lives. People with sickle cell anemia are living longer today than in the past. Many patients with sickle cell anemia now live into their forties and fifties and beyond.
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