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Health Alert! Sickle Cell Anemia |
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Oct/Nov/Dec 2007
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Step by Step Guide to Understanding Sickle Cell Disease and Treatment and Advances at UF&Shands Jacksonville and Nemours Children's Clinic
Other sickle cell related complications include: • Dactylitis or hand-foot syndrome : Manifested by swelling of the hands and feet with or without pain or tenderness that is related to intravascular sickling, occurring around six months to two years of life. • Pain or vaso-occlusive crisis (VOC): Occurs mostly in the arms, legs and back but can occur in any part of the body including the abdomen, head, and chest for which no other related cause can be found. • Splenic sequestration: A potentially fatal complication of sickle cell disease during infancy. It is characterized by acute splenic enlargement, with trapping of the red blood cells in the spleen, causing severe anemia or a drop in hemoglobin of 2g/dL or more, and the potential for failure of the circulatory system with no oxygen being supplied to the brain or other essential organs of the body. It is usually uncommon during the first five months of life but usually occurs between the age of six months and two years of life. The youngest reported child with splenic sequestration crisis was three months of age. • Avascular necrosis (AVN) : Characterized by decreased blood flow to the long bones of the humerus and femur can cause degeneration and pain to those areas. Many sickle cell patients have had shoulder and hip replacements to alleviate severe pain and debilitation due to AVN. • Acute chest syndrome (ACS) : A leading cause of death of those with sickle cell disease as a result of sickling that occurs in the small blood vessels of the lungs, leading to pneumonia like appearance on a chest x-ray. • Priaprism : This is a painful unwanted erection that occurs in males. Severe episodes lasting for 30-60 minutes or more need immediate treatment to prevent impotence and thickening of penile skin. • Stroke: Blocked blood flow to an area of the brain that cause weakness, numbness, trouble speaking, or trouble thinking; 11% of those with sickle cell disease will have an overt stroke (obvious symptoms such as cognitive, physical, and speech impairment) by age 18 and nearly 20% will have a clinically "silent" stroke (no obvious deficits). • Jaundice, yellow eyes, or gallstones : Caused by increased breakdown of the red blood cells, which in turn causes increased buildup of bilirubin in the blood; too much bilirubin in the blood may cause yellow eyes and the formation of gallstones in the gallbladder. • Sickle retinopathy : Sickling may occur in the small blood vessels of the eyes and also cause formation of more blood vessels; if not detected and treated vision damage may result. Because of the high morbidity and mortality of sickle cell disease for those undiagnosed in the past, all 50 states provide universal newborn screening for sickle cell disease. The State of Florida , through the Children's Medical Services (CMS) Program within the Department of Health serves the State's children with special health care needs. The CMS network offers a full range of care which includes prevention and early intervention services. Services are provided through 22 local CMS area offices located throughout the state. A team of trained pediatricians, subspecialty physicians, nursing, social work professional, and support staff at each CMS area office coordinate primary and specialty care services with the families. The newborn screening program tests all babies born in Florida for metabolic, and genetic (sickle cell) disorders. The screening is free to families and includes a referral to a regional specialist center for treatment, intervention, and counseling. C.B. McIntosh Sickle Cell Center at UF&Shands Jacksonville and Nemours Children's Clinic in Jacksonville is a regional specialist center designated by the State of Florida . Children referred to this site always receive a confirmatory test called a hemoglobin electrophoresis to support the initial diagnosis; after those results are received children are enrolled in the clinic at either C.B. McIntosh Sickle Cell Center or Nemours Children's clinic and followed regularly by the hematology team that includes a team of six hematologists, a child psychologist, a social worker, and nurses all associate to Nemours Children's Clinic, Shands Jacksonville and CMS. The tests done to support diagnosis of sickle cell disease may include the following: High-performance liquid chromatography (HPLC); isoelectric focusing (IEF); cellulose acetate and citrate agar electrophoresis. The four most common types of sickle cell diseases are hemoglobin SS disease, hemoglobin SC disease, sickle beta zero thalassemia or sickle beta plus thalassemia. Hemoglobin SD and hemoglobin SE are other uncommon types of sickle cell disease with fewer complications. Parents are highly encouraged to know their hemoglobin types, since two persons with the sickle cell trait have a one in four chance of having a child with sickle cell disease every time the woman conceives. The preferred test for diagnosis is hemoglobin electrophoresis since it specifies any abnormal hemoglobin type including S, C, D, J or E. Everyone is born with two genes (one from each parent) for hemoglobin type. Normal hemoglobin is referred to as hemoglobin A; there are more than 600 types of abnormal hemoglobin and some , when combined with hemoglobin S may create a sickling disorder as in hemoglobin SC, hemoglobin SD, sickle beta zero thalassemia, or sickle beta plus thalassemia. The types of sickle cell disease with the most serious complications are hemoglobin SS and sickle beta zero thalassemia. Persons with hemoglobin trait generally have no complications related to their trait status. However, on rare occasions problems have been associated with sickling as a result of overexertion, climbing at high altitudes, blood in the urine, and sickle retinopathy. Those with hemoglobin S trait have normal hemoglobin A and a hemoglobin S gene. Parents are educated regarding the possibility of passing the S gene to offspring. Patients are seen every three months during their first year of life and more often if needed. As the child gets older intervals of visits are decreased. Periodic testing that are done include a complete blood count, reticulocyte count, liver enzymes, ferritin level, and urinalysis to document that child's baseline laboratory values. As the child gets older other test s include a transcranial doppler (for those with hemoglobin SS disease and sickle beta zero thalassemia) beginning at age 2-3 to determine if the child may be at risk for stroke, echocardiogram an EKG to evaluate cardiac function and pathology, and ophthalmology exams to rule out sickle retinopathy. Management : Sickle cell disease is treated by keeping the patient well hydrated at home and when hospitalized, pain management includes Acetaminophen and Ibuprofen for minor pain, Lortab and Tylenol with codeine for moderate pain, morphine for more severe pain, and hydroxyurea is used for those who may have frequent pain crises, priaprism, or stroke in the past to decrease episodes or prevent reoccurrence(s); fever of 101.0 Fahrenheit or more is always an emergency to prevent sepsis, treatment may include radiology and laboratory testing followed by antibiotics; those with hemoglobin SS disease and sickle beta zero thalassemia are placed on penicillin beginning at age 2 months until they are five years of age to prevent a pnemococcal infection, which have been known to be fatal; oxygen is used for those with oxygen saturation less than 92% or experiencing chest or breathing discomfort, red blood cells that are deoxygenated sickle much easier and may cause a pain crisis; those who are at high risk for stroke or have had a stroke in the past are usually treated with monthly blood transfusions to decrease their sickled red blood cells; hydrea (originally designed as a cancer drug) is a given to decrease pain crisis and other sickle cell complications by increasing hemoglobin F. Hemoglobin F or "baby" hemoglobin is produced while the infant is in utero but usually disappears at about two years of life. Studies have shown that those sickle cell patients with higher hemoglobin F levels have less sickle cell related complications Sickle cell patients also need to be followed by their pediatrician for other non sickle cell related issues including immunizations, and well child physicals. All those with sickle cell disease are educated on getting all required childhood immunizations including Prevnar (to decrease the risk of pneumococcal sepsis), and a flu vaccine during the flu season for those older than six months of age. The goal of the C. B. McIntosh Sickle Cell clinic at UF&Shands Jacksonville is to provide the best health care for those with sickle cell disease by providing necessary services. Confirmatory testing, counseling, sickle cell maintenance care, tutorial, and transition assistance are some of the services that are offered. Through detection, education, counseling, intervention, treatment, perseverance, and research the quality of life and life expectancy will definitely improve for those with sickle cell disease. One giant step towards improvement is a $1.3 million grant from the Lucy B. Gooding Foundation. Elizabeth G. Means Vice President of Community Affairs and Administrator of the Sickle Cell Program at Shands Jacksonville was instrumental in obtaining the grant. Services to be delivered for those with sickle cell disease include a transition program to assist with a smooth transfer of care from pediatric hematology care to that of an adult hematology provider and neuropsychological testing. Finally plans are being developed to offer hematology services to the adult sickle cell patients at the C.B. McIntosh Sickle Cell Center . The adults have difficulty receiving services due to no insurance or being underinsured. It is the vision of the hematologists to have a model comprehensive sickle cell center available for all. It is evident that progress is being made and step by step sickle cell disease will be conquered. Article courtesy of Linda Richo (nurse educator) at the Nemours Children's Clinic in Shands Jacksonville. For more information on Sickle Cell Disease please contact Ms. Richo at ( linda.richo@jax.ufl.edu ) or by phone (904) 244-4010. |
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Sickle cell disease is an inherited disorder that affects the red blood cells, causing them to become hard and assume a sickle shape. The sickled red blood cells are responsible for blocking the capillaries (very small blood vessels) thus impeding blood flow beyond the blockage resulting in pain, tissue damage, and organ damage or dysfunction. Sickle cell disease predominantly affects blacks but may affect any race including Hispanics, Italians, Indians, Caucasians, and those of Middle Eastern descent.
