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.

Contents

• [Inside Front Cover]
• Guideline Development and Use
• Foreword
• Panel Members
• Acknowledgments
• Executive Summary
• Overview
• 1. Guideline: Population To Be Screened
  • Introduction
  • Importance of Population Characteristics
  • Difficulties in Assessing Characteristics
  • Assumptions
  • Methods
  • Results
  • Discussion
  • Cost-Effectiveness of Screening
  • Issues for Future Research
• 2. Guideline: Laboratory Screening for Sickle Cell Disease
  • Background
  • Reporting
  • Quality Assurance and Quality Control
• 3. Guideline: Medical Management of Newborns and Infants with Sickle Cell Disease
  • Entry Into Care
  • Penicillin Prophylaxis
  • Diagnosis and Management of Complications
  • Health Maintenance
• 4. Recommendation: Educating and Counseling Parents of Newborns with Sickle Cell Disease and Trait
  • Education
  • Decision-Making Counseling
  • Resources to Provide Educational and Decision-Making Counseling
  • Qualifications for Sickle Cell Educators
  • Counselor Qualifications
  • Conclusion
• Acronyms
• Glossary
• Biosketches: Sickle Cell Disease Guideline Panel Members
• Contributors [1]
• Attachments
• References

Suggested citation:

Sickle Cell Disease Guideline Panel. Sickle Cell Disease: Screening, Diagnosis, Management, and Counseling in Newborns and Infants. Clinical Practice Guideline No. 6. AHCPR Pub. No. 93 0562. Rockville, MD: Agency for Health Care Policy and Research, Public Health Service, U.S. Department of Health and Human Services. April 1993.