SICKLE CELL ANEMIA Sickle cell anemia (sickle cell disease) is a disorder of the blood caused by an inherited abnormal

hemoglobin (an oxygen-carrying protein within the red blood cells). The abnormal hemoglobin causes distorted (sickled) red blood cells. The sickled red blood cells are fragile and prone to rupture. When the number of red blood cells decreases from rupture (hemolysis), anemia is the result. This condition is referred to as sickle cell anemia. The irregular sickled cells can also block blood vessels causing tissue and organ damage and pain. Sickle Cell Crisis Overview Sickle cell disease is the most common of the hereditary blood disorders. It occurs almost exclusively among black Americans and black Africans. Sickle cell disease in black Americans occurs in 3 of every 1,000 (or about 1 in 375) live births. Estimates indicate that the severe form of sickle cell disease affects more than 50,000 black Americans. The first account of what was then called sickle cell anemia in the medical literature was in 1910. James B. Herrick, a Chicago physician, described the symptoms of a 20-year-old black male student from the West Indies. The man had reported "shortness of breath, palpitations, and episodes of icterus [yellow eyes]. He had an anemia." Dr. Herrick described the patient's blood smear as showing "thin, sickle-shaped and crescent-shaped red cells." Red blood cells deliver oxygen to working or active tissues. In the lungs, hemoglobin (the molecule in the red blood cell) takes on oxygen and, at the same time, releases carbon dioxide. This process is called oxygenation. At the tissue level, this activity is reversed. The same hemoglobin molecule releases oxygen and takes on carbon dioxide. This process is called deoxygenation. In sickle cell disease, certain red blood cells become crescent-shaped (the sickle cell Dr. Herrick described). These abnormal red blood cells, carrying abnormal hemoglobin known as hemoglobin S, are fragile. A person who has sickle cell disease can become more likely to get infections because the damaged cells eventually clog the spleen. A severe attack, known as sickle cell crisis, can cause pain because blood vessels can become blocked or the defective red blood cells can damage organs in the body. Incidence

Equal male-female ratio Increase incidence in African Americans

Etiology

Sickle cell anemia is inherited as an autosomal (meaning that the gene is not linked to a sex chromosome) recessive condition whereas sickle cell trait is inherited as an autosomal dominant trait. This means that the gene can be passed on from a parent carrying it to male and female children. In order for sickle cell anemia to occur, a sickle cell gene must be inherited from both the mother and the father, so that the child has two sickle cell genes. The inheritance of just one sickle gene is called sickle cell trait or the "carrier" state. Sickle cell trait does not cause sickle cell anemia. Persons with sickle cell trait usually do not have many symptoms of disease and have normal hospitalization rates and life expectancies. Sickle cell trait is present in some two million blacks in the United States (8% of the U.S. black population at birth). When two carriers of sickle cell trait mate, their offspring have a one in four chance of having sickle cell anemia. (In some parts of Africa, one in five persons is a carrier for sickle cell trait.

Sickle Cell Crisis Causes Sickle cell disease results from mutation, or change, of certain types of hemoglobin chains in red blood cells (the beta hemoglobin chains). The changes in the building of normal hemoglobin result in the abnormal hemoglobin of sickle cell disease. These mutated molecules do not have the smooth motion needed for oxygenation and deoxygenation. When the oxygen concentration in the blood is reduced, the red blood cell assumes the characteristic sickle shape. This causes the red blood cell to be stiff and rigid, and stops the smooth passage of the red blood cells through the narrow blood vessels. It does not take much imagination to see sharp-end "sickled" red cells stacking up in narrow blood vessels known as capillaries. When this happens, red blood cells are not able to carry oxygen to tissues, and tissue cell injury or death occurs. Someone with sickle cell disease would be experiencing pain with this process-the sickle cell crisis. Sickle Cell Crisis Symptoms The sites most often affected by the blocking or stacking action of sickled cells are found in the lungs, liver, bone, muscles, brain, spleen, penis, eyes, and kidneys. The immune system of a person with sickled cells dramatically weakens. People with sickle cells are highly susceptible to infections from certain forms of bacteria. Some of the most common infections are from flu viruses, pneumonia, and salmonella (a type of bacteria).

Severe pain is the most common of sickle cell disease emergencies (acute sickle cell crises). A person may not know what brought on the pain, but one or more of the following situations may have contributed to the start of the painful sickle crisis: Dehydration Infection Fever Hypoxia (decrease in oxygen to body tissue) Bleeding Cold exposure Drug and alcohol use Pregnancy and stress Four patterns of an acute sickle cell crisis are now recognizable. They are based on the part of the body where the crisis occurs.

Bone crisis: An acute or sudden pain in a bone can occur, usually in an arm or leg. The area may be tender. Common bones involved include the large bones in the arm or leg: the humerus, tibia, and femur. The same bone may be affected repeatedly in future episodes of bone crisis. Acute chest syndrome: Sudden acute chest pain with coughing up of blood can occur. Low-grade fevers can be present. The person is usually short of breath. If a cough is present, it often is non productive.Acute chest syndrome is common in a young person with sickle cell disease. Chronic (long-term) sickle cell lung disease develops with time because the acute and sub acute lung crisis leads to scarred lungs and other problems. Abdominal crisis: The pain associated with the abdominal crisis of sickle cell disease is constant and sudden. It becomes unrelenting. The pain may or may not be localized to any one area of the abdomen. Nausea, vomiting, and diarrhea may or may not occur. Joint crisis: Acute and painful joint crisis may develop without a significant traumatic history. Its focus is either in a single joint or in multiple joints. Often the connecting bony parts of the joint are painful. Range of motion is often restricted because of the pain.

Many other organ systems are often injured or impaired.

Central nervous system: Two-thirds of all strokes in people with sickle cell disease occur in children, at an average age of8 years. About 10% of people with sickle cell disease have strokes or other brain bleeding when younger than 8-10 years. As the population ages, the incidence of these events also increases. Repeat strokes occur in two-thirds of all survivors within 3 years of the first stroke. Blood clots affect the large vessels in the brain. Bleeding may occur in the small vessels damaged by sickle cell disease. Eyes: The effect of sickle cell disease on the eyes comes from the increased viscosity, or "sludging," of blood and the narrowness of the eye's blood vessels. Retinopathy (disease of the retina in the eye) is common and causes problems with vision. Retinal detachment is frequent. Hyphemas, bleeding in the eye, occur at the same rate as the general population, but complications are more common because of the increased sickling effect that the water like fluid in the eye promotes. Kidneys: Some amount of kidney damage occurs in nearly every person with sickle cell disease. Genitals: Priapism (a constant erection of the penis) is common. It affects about 40% of all men with sickle cell disease. Severe episodes are a frequent cause of impotency.

Infections: People with sickle cell disease have weakened immune systems and are at increased risk for developing infection, especially in the lungs, kidneys, bones, and central nervous system. Blood problems: People with sickle cell disease can develop anemia-a reduction in the number of red blood cells. Symptoms of anemia are shortness of breath (oxygen is not getting to tissues), lightheadedness, and fatigue.

When to Seek Medical Care If certain conditions develop in a person with sickle cell disease, the person must contact a physician. If the physician is not quickly available or cannot see the person right away, the person with sickle cell disease may choose to go to a hospital's emergency department. Contact the physician in the following cases:

Many people with sickle-cell disease have pain with enough frequency that they need to take pain medications at home. If the pain is unrelieved by the medication, or the pain is significantly different from previous episodes, contact the health care provider. If experiencing nausea, vomiting, and diarrhea; losing a lot of fluid; and having inability to drink and keep it down, the person with sickle cell disease is in danger of becoming dehydrated. This is a serious concern with sickle cell disease. The physician or the hospital may provide IV fluids to replace the lost fluids. It is important to control infection. If it appears that a person with sickle cell disease is getting an infection, even infusing antibiotics to prevent infection, contact the physician immediately.

A sickle cell crisis can often be managed efficiently and quickly in a hospital's emergency department with fluids and pain medicines. A person with sickle cell disease should not delay going to the hospital. Delay can only make the condition worse and might require hospitalization for treatment. Go to a hospital's emergency department if these conditions develop:

Uncontrollable pain even with the use of narcotics Continued loss of fluid leading to dehydration (if vomiting) Uncontrollable fever Chest pain or shortness of breath Severe abdominal pain

Exams and Tests The health care provider will take the complete medical history of a person with sickle cell disease. This history should include whether any infections are present. The health care provider will ask about other problems that are common starters of sickle cell crisis. These problems would be a lack of oxygen in the tissue, bleeding, dehydration, alcohol and drug use, pregnancy, and other concerns.

During a physical exam, the physician will check the nervous system, lungs, bones, eyes, and abdomen, in particular.

The physician will perform blood and urine tests. If indicated, the physician may have a CT scan of the head taken and perform a spinal tap to check for problems in the spinal fluid and brain.

If the physician suspects sickle cell disease in an adult, or more commonly a child not previously diagnosed with this disease, attention will first be paid to getting a family history of sickle cell disease. The physician then performs a blood test to diagnose the disease. Diagnosis Early diagnosis of sickle cell anemia is critical so children who have the disease can receive proper treatment. Blood test - More than 40 states now perform a simple, inexpensive blood test for sickle cell disease on all newborn infants. This test is performed at the same time and from the same blood samples as other routine newborn-screening tests. Hemoglobin electrophoresis is the most widely used diagnostic test. If the test shows the presence of sickle hemoglobin, a second blood test is performed to confirm the diagnosis. These tests also tell whether or not the child carries the sickle cell trait.

Treatment- Although there is no cure for sickle cell anemia, doctors can do a great deal to help patients, and treatment is constantly being improved. Basic treatment of painful crises relies heavily on painkilling drugs and oral and intravenous fluids to reduce pain and prevent complications. Blood Transfusions - Transfusions correct anemia by increasing the number of normal red blood cells in circulation. They can also be used to treat spleen enlargement in children before the condition becomes life-threatening. Regular transfusion therapy can help prevent recurring strokes in children at high risk. Oral Antibiotics - Giving oral penicillin twice a day beginning at 2 months and continuing until the child is at least 5 years old can prevent pneumococcal infection and early death. Recently, however, several new penicillin-resistant strains of pneumonia bacteria have been reported. Since vaccines for these bacteria are ineffective in young children, studies are being planned to test new vaccines. Hydroxyurea - The first effective drug treatment for adults with severe sickle cell anemia was reported in early 1995, when a study conducted by the National Heart, Lung, and Blood Institute showed that daily doses of the anticancer drug hydroxyurea reduced the frequency of painful crises and acute chest syndrome. Patients taking the drug needed fewer blood transfusions. Regular health maintenance is critical for people with sickle cell anemia. Proper nutrition, good hygiene, bed rest, protection against infections, and avoidance of other stresses all are important in maintaining good health and preventing complications. Regular visits to a physician or clinic that provides comprehensive care are necessary to identify early changes in the patient's health and ensure immediate treatment.

Management Conservative Management 1. Pain relief with Acetaminophen (Tylenol) or IV of morphine to reduce metabolic demand of oxygen thereby, terminating cell sickling. 2. Adequate hydration IV fluids and electrolyte replacement 3. Oxygenation

4. Antibiotics if the cause of sickling is infection. 5. Blood transfusion with packed RBCs 6. Hydroxyurea anti neoplastic agent that increases production of fetal hemoglobin in children. 7. Exchange transfusion replacing sickled with normal cells If the patient does not respond to the usual therapies STEM CELL TRANSPLANTATION is done. Nursing Management 1. Monitor vital signs. Assess for pain. 2. Obtain blood and urine culture, chest x-ray and CBC results if infection is the cause of sickling. 3. Monitor childs nutritional intake with hydroxyurea. If taken orally, this drug can cause anorexia. 4. Assess for kidney function by noting if the child has urinated or not. (Kidney infarction may occur) Do not administer potassium if the kidney function is not verified. Potassium if not excreted by the kidney may cause arrhythmia Self-Care at Home Even tiny changes in the red blood cells can begin a cascade of symptoms leading to a sickle cell crisis. Therefore, home care, even when a person is careful about drinking plenty of fluids and avoiding infection, is difficult. The best home care is understanding the illness and knowing when and where to seek immediate medical care.