Foreword A3C55 No.6 PUBL Historically, sickle cell anemia-the most common form of sickle cell disease has been associated with high mortality in early childhood due to overwhelming bacterial infections, splenic sequestration crisis, and the acute chest syndrome. Over the past 20 years, it has been recognized that comprehensive medical care could reduce morbidity and mortality in children with sickle cell anemia. In 1986, a double-blind, randomized, controlled clinical trial demonstrated that twice-daily doses of oral penicillin reduced mortality and morbidity from pneumococcal infections in children under 5 years of age with sickle cell anemia and sickle betaothalassemia. A National Institutes of Health Consensus Conference on Newborn Screening concluded that screening could reduce morbidity and mortality, provided screening was linked to the provision of health care services. Shortly after these findings were disseminated, neonatal sickle cell screening became widespread in the United States and now exists in more than 40 States. The development of these screening programs was stimulated by funds from the Bureau of Maternal and Child Health of the Public Health Service. The remarkable growth of these screening programs illustrates how Federal and State partnerships can dramatically improve the quality of health care. There remain, however, many unresolved issues related to neonatal sickle cell screening. This guideline addresses these issues and provides specific recommendations for the implementation and conduct of a screening program based upon currently available scientific literature and, when such literature is lacking, the expert opinions of the panel members. Sickle Cell Disease Guideline Panel Abstract This clinical practice guideline sets forth a comprehensive program for identifying, diagnosing, and treating newborns and infants with sickle cell disease and recommends education and counseling strategies for their parents. Sickle cell disease comprises a group of genetic disorders characterized by the production of hemoglobin S, anemia, and acute and chronic tissue damage secondary to the blockage of blood flow by abnormally shaped red cells. Sickle cell anemia is the most common form of the disease, and it affects approximately 1 in 375 African-American infants. Although in the United States sickle cell disease is most commonly found in persons of African ancestry, it also affects other populations. The panel recommends screening of all newborns for sickle cell disease, since targeting specific groups will miss some infected infants. Samples of dried blood on filter paper or liquid blood samples should be used for hemoglobinopathy screening. Hemoglobin electrophoresis, isoelectric focusing, and high performance liquid chromatography are acceptable, reliable, and accurate testing methods. Infants identified on initial screening must be retested to establish a definitive diagnosis. Affected infants must be given twice-daily oral penicillin beginning at 2 months of age to reduce pneumococcal infections. Parents must be taught to recognize early signs and symptoms of specific complications, including fever, splenic sequestration crisis, respiratory distress, and dehydration. Appropriate medical followup includes regular visits to assess the infant's medical status and administration of age-appropriate immunizations, including pneumococcal, conjugated Haemophilus influenzae, and hepatitis B vaccines. Infants with sickle cell disease require the same well-child care as infants without disease. Education and nondirective genetic counseling should be offered to all parents of infants with sickle cell disease. The guideline stresses the need for a comprehensive and fully integrated approach to reduce morbidity and mortality from sickle cell disease. The guideline was developed by a private-sector panel of health care experts and a consumer representative and is based on the best science available, including hundreds of scientific sources and the expertise and experience of panel members, consultants, and peer and pilot reviewers. This document is in the public domain and may be used and reprinted Sickle Cell Disease Guideline Panel. Sickle Cell Disease: Screening, Abstract This clinical practice guideline sets forth a comprehensive program for identifying, diagnosing, and treating newborns and infants with sickle cell disease and recommends education and counseling strategies for their parents. Sickle cell disease comprises a group of genetic disorders characterized by the production of hemoglobin S, anemia, and acute and chronic tissue damage secondary to the blockage of blood flow by abnormally shaped red cells. Sickle cell anemia is the most common form of the disease, and it affects approximately 1 in 375 African-American infants. Although in the United States sickle cell disease is most commonly found in persons of African ancestry, it also affects other populations. The panel recommends screening of all newborns for sickle cell disease, since targeting specific groups will miss some infected infants. Samples of dried blood on filter paper or liquid blood samples should be used for hemoglobinopathy screening. Hemoglobin electrophoresis, isoelectric focusing, and high performance liquid chromatography are acceptable, reliable, and accurate testing methods. Infants identified on initial screening must be retested to establish a definitive diagnosis. Affected infants must be given twice-daily oral penicillin beginning at 2 months of age to reduce pneumococcal infections. Parents must be taught to recognize early signs and symptoms of specific complications, including fever, splenic sequestration crisis, respiratory distress, and dehydration. Appropriate medical followup includes regular visits to assess the infant's medical status and administration of age-appropriate immunizations, including pneumococcal, conjugated Haemophilus influenzae, and hepatitis B vaccines. Infants with sickle cell disease require the same well-child care as infants without disease. Education and nondirective genetic counseling should be offered to all parents of infants with sickle cell disease. The guideline stresses the need for a comprehensive and fully integrated approach to reduce morbidity and mortality from sickle cell disease. The guideline was developed by a private-sector panel of health care experts and a consumer representative and is based on the best science available, including hundreds of scientific sources and the expertise and experience of panel members, consultants, and peer and pilot reviewers. This document is in the public domain and may be used and reprinted Sickle Cell Disease Guideline Panel. Sickle Cell Disease: Screening, |