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Sickle Cell Disease Guideline Panel. Sickle Cell Disease: Screening, Diagnosis, Management, and Counseling in Newborns and Infants. Rockville (MD): Agency for Health Care Policy and Research (AHCPR); 1993 Apr. (AHCPR Clinical Practice Guidelines, No. 6.)

  • This publication is provided for historical reference only and the information may be out of date.

This publication is provided for historical reference only and the information may be out of date.

Cover of Sickle Cell Disease: Screening, Diagnosis, Management, and Counseling in Newborns and Infants

Sickle Cell Disease: Screening, Diagnosis, Management, and Counseling in Newborns and Infants.

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Attachment A. Algorithm

  • algorithm nodes 1-10
  • algorithm nodes 11-21
Image f47_scdalg.jpg

Annotation

Introduction

An algorithm was developed as a visual display of the organization, procedural flow, and decision points in identifying and caring for newborns and infants with sickle cell disease, sickle cell trait, and other hemoglobinopathies and educating and counseling their parents. Numbers in the algorithm refer to the annotations that follow; chapter references are to the Clinical Practice Guideline on Sickle Cell Disease: Screening, Diagnosis, Management, and Counseling in Newborns and Infants.

Universal screening

1. The panel concluded that universal newborn screening should be conducted to detect sickle cell disease. This conclusion is based both on considerations of practicality and cost- effectiveness. Screening for hemoglobinopathies should be conducted in parallel with other conditions routinely screened for in newborns.

Performed in laboratories meeting appropriate standards

2. The panel concluded that sickle cell screening should be performed only in laboratories that meet appropriate standards of performance and reporting. Quality assurance activities and appropriate reporting practices are discussed in Chapter 2. The panel concluded that any of three methods are acceptable for sickle cell screening: (1) hemoglobin electrophoresis, (2) isoelectric focusing, and (3) high performance liquid chromatography. All are considered reliable and accurate. Metabisulfite sickle cell preparations and solubility testing, however, are not acceptable screening methods for newborns and should not be used to confirm the presence of hemoglobin S in newborns and infants.

Blood samples for testing may be submitted as anticoagulated blood from the umbilical cord or as dried blood spots collected onto filter paper. Each method has advantages and disadvantages. Filter paper samples are more easily integrated into existing newborn screening programs.

Abnormality detected?

3-4. The common types of sickle cell abnormalities are discussed in Chapters 1 and 2. Parents of sickle cell trait infants should be offered education and counseling. Couples at risk for having an infant with sickle cell disease should be offered decision-making counseling.

Other disease?

Parents of infants with other diseases or heterozygote conditions should be offered education and counseling. Couples at risk for having a child with disease should be offered decision- making counseling.

5. The presence of another abnormal hemoglobin may warrant referral for medical care. Parents of children with trait should be offered counseling. These issues are discussed in Chapters 1, 2, and 4.

Appropriate reporting

6. Reporting of preliminary screening results is discussed in Chapters 2 and 3.

Initiation of comprehensive care including penicillin prophylaxis and immunization

7. Children with sickle cell disease identified on screening examination should be referred to a comprehensive care program without delay. Because confirmatory testing may not be complete for several weeks or months, it is important not to delay the basic elements of care, as described in nodes 9-12. The panel concluded that prophylaxis against pneumococcal infection is warranted in all children with sickle cell anemia and sickle betao-thalassemia. Administration of twice-daily oral penicillin has been demonstrated to reduce morbidity and mortality in these children. Children with sickle cell anemia also are at high risk for pneumococcal and Haemophilus influenzae infections. Immunization is extremely important (Chapter 3) and should be initiated by 2 months of age.

Confirmatory testing positive?

8. All positive screening tests for sickle cell disease require a second blood sample to confirm the initial hemoglobin phenotype. A definitive diagnosis should be established by the infant's physician.

Counseling and education of parents

9. Parents of infants with sickle cell disease must be counseled concerning the implications of their child's condition. Specifically, parents should be informed about the need for close vigilance with respect to the development of signs and symptoms that could indicate a serious medical problem. Any of the following warrant immediate medical consultation: (1) fever, (2) symptoms of respiratory tract infection, (3) increasing pallor, (4) increasing spleen size or abdominal distension, (5) weakness or numbness of an extremity, and (6) painful swelling of hands and feet. Information also should be provided concerning diet and adequate hydration. Parents should be trained in home management skills and should receive genetic counseling (Chapters 3 and 4).

Health maintenance and compliance

10. The schedule of health maintenance visits need not differ from that used for a well child. Strenuous efforts must be made by the health care provider to ensure compliance with penicillin prophylaxis (Chapter 3).

Parent presents child for emergency care?

11. Parents should be encouraged to seek immediate medical attention whenever the warning signs described in node 12 are noted.

Patient febrile?

12. Fever over 101 degrees F (38.5 degrees C) requires immediate medical evaluation. The parent also should be told that changes in behavior (unusual somnolence or irritability) or alimentation (refusing feeding, vomiting, or diarrhea) are other possible early signs of significant illness.

Consider sepsis

13. It is critical that all health care providers who care for patients with sickle cell disease be knowledgeable about the significance of fever in these children. The importance of evaluating febrile sickle cell children promptly and administering broad-spectrum antibiotics are emphasized. Management of febrile children with sickle cell disease is discussed in Chapter 3.

Pallor, lethargy, and abdominal symptoms?

14-15. Acute anemia emergencies are common in children with sickle cell disease, particularly acute splenic sequestration and aplastic crises. Diagnosis and management of these conditions are discussed in Chapter 3.

Limping, paresis, or other symptoms compatible with stroke?

16-17. Although relatively infrequent, both parents and providers must be alert for the possibility of a stroke. Any loss of consciousness or weakness of an extremity should be evaluated promptly.

Painful swelling of hands and feet?

18-19. The most frequent early complication of sickle cell disease is the hand-and-foot syndrome, or dactylitis (Chapter 3).

Attachment B. Neonatal Hemoglobinopathy Screening Policies and Primary Laboratory Methods in 53 U.S. Jurisdictions as of Mid-1992

JurisdictionPopulation Screened Types of ScreeningLaboratory Method(s)*Comments
AlabamaUniversalMandatoryCAE
AlaskaSends metabolic tests to Oregon
ArizonaUniversalMandatorySends hemoglobinopathy tests to Colorado
ArkansasUniversalMandatoryIEF
CaliforniaUniversalMandatoryHPLC, IEFScreens in three regions with some regional private contracting.
ColoradoUniversalMandatoryIEFScreens for Arizona and Wyoming and for the dependents of Federal personnel in the Pacific.
ConnecticutUniversalVoluntarySends hemoglobinopathy tests to New York.
DelawareUniversalVoluntarySends all tests to Oregon.
District of ColumbiaUniversalVoluntaryIEFTest performed at Howard University (along with tests from the Virgin Islands).
FloridaUniversalMandatoryIEF
GeorgiaNon-universalMandatory VoluntaryCAEHemoglobinopathy screening is mandatory for religiously non-objecting members of 13 ethnic groups; it is voluntary for others.
Hawaii
IdahoSends metabolic tests to Oregon.
IllinoisUniversalMandatoryIEF
IndianaUniversalMandatoryIEF, ELP
IowaUniversalMandatoryIEF
KansasUniversalVoluntaryIEF
KentuckyNon-universalVoluntaryIEFScreening is universal in selected hospitals.
LouisianaNon-UniversalMandatoryIEF
MaineSends metabolic tests (and occasional hemoglobinopathy tests) to Massachusetts.
MarylandUniversalVoluntaryIEFScreens for dependents of the U.S. Armed Forces in Germany.
MassachusettsUniversalMandatoryIEFPerforms hemoglobinopathy testing occasionally for Maine and more regularly for New Hampshire, Rhode Island, and Vermont.
MichiganUniversalMandatoryIEF
MinnesotaUniversalMandatoryIEF
MississippiUniversalMandatorySends all tests to Tennessee.
MissouriUniversalMandatoryIEF
Montana
Nebraska
NevadaUniversalMandatorySends all tests to Oregon.
New HampshireNon-universalVoluntarySends all tests to Massachusetts.
New JerseyUniversalMandatoryIEF
New MexicoVoluntaryIEF
New YorkUniversalMandatoryCAEPerforms hemoglobinopathy testing for Connecticut.
North CarolinaNon-universalVoluntaryIEF
North Dakota
OhioUniversalMandatoryIEF
OklahomaUniversalVoluntaryIEFSwitched from regional to universal screening in 1991.
OregonIEFScreens for hemoglobinopathies for citizens of Delaware and Nevada but not yet for Oregonians.
PennsylvaniaNon-universalMandatoryIEFConsidering a change from regional (Philadelphia) universal screening to statewide universal screening.
Rhode IslandMandatorySends all tests to Massachusetts.
Puerto RicoUniversalMandatoryCAEFor 1990, only 52 percent of live births were screened for hemoglobinopathies, 87 percent for PKU.
South CarolinaUniversalMandatoryCAEPerforms metabolic testing for West Virginia.
South Dakota
TennesseeUniversalMandatoryIEFPerforms all testing for Mississippi.
TexasUniversalMandatoryIEF
Utah Had a universal, mandatory program using IEF while federally supported.
VermontNon-universalVoluntarySends all tests to Massachusetts.
VirginiaUniversalMandatoryIEF
Virgin IslandsUniversalVoluntarySends all tests to Howard University's laboratory in Washington, DC
WashingtonUniversalIEFNon-universal hemoglobinopathy screening abandoned for universal regional screening (May, 1991) and then statewide universal screening (November, 1991).
West VirginiaNon-universalVoluntaryUnspecifiedHemoglobinopathy screening (free) by parental request only. Sends metabolic tests to South Carolina.
WisconsinUniversalMandatoryIEF
WyomingUniversalMandatorySends all tests to Colorado.

* Laboratory-method acronyms: IEF (isoelectric focusing), CAE (cellulose acetate electrophoresis), ELP (electrophoresis, type unspecified), HPLC (high performance liquid chromatography).

Attachment C. Sources of Patient Education Materials

  • A Brighter Heritage (Video, 17 min)
  • Chronic Illness in the Classroom (Video, 15 min)
  • Mississippi State Department of Health
  • Genetics Division
  • P.O. Box 1700
  • Jackson, MS 39215
  • Phone: 601-960-7619
  • The Infant and Young Child with Sickle Cell Anemia (a guide for parents, in English and Spanish)
  • Pneumococcal Infection and Penicillin
  • So Your Baby Has the Sickle Cell Trait (Spanish and English)
  • Also available: brochures on sickle cell trait, sickle beta-thalassemia, hemoglobin C disease, pain in children, and various complications
  • Texas Department of Health
  • Newborn Screening Program
  • 1100 West 49th St
  • Austin, TX 78756-3199
  • Phone: 512-458-7000
  • Sickle Cell Anemia, (Medicine for the Public) (NIH Pub. No. 90-3058)
  • Clinical Center Communications
  • 9000 Rockville Pike
  • Building 10, Room 1C255
  • Bethesda, MD 20892
  • Phone: 301-496-2563
  • Sickle Cell: A Selected Resource Bibliography (Cat. No. D002)
  • So I Have the Sickle Cell Trait (Cat. No. B050)
  • National Maternal and Child Health Clearinghouse
  • 8201 Greensboro Drive
  • McLean VA 22102
  • Phone: 703-821-8955
  • Hemoglobin S (Spanish)
  • Hemoglobin C (Spanish and English)
  • All You Ever Wanted to Know About Sickle Cell Trait
  • Northern California Comprehensive Sickle Cell Center
  • Oakland, CA 94609
  • Phone: 510-428-3651
  • A Parent's Handbook for Sickle Cell Disease (Birth to age 6)
  • Education Programs Associates
  • 1 West Campbell Ave, Building D
  • Campbell, CA 95008
  • Phone: 408-374-1210
  • The Family Connection Sickle--Cell Trait (English, French, Spanish)
  • The Family Connection--Hemoglobin C Trait (English, French, Spanish)
  • Newborn Screening for Your Baby's Health (English, Spanish)
  • Directory of Available Sickle Cell Services in New York State
  • Sickle Cell Anemia
  • New York State Department of Health
  • Newborn Screening Program
  • Wadsworth Center for Laboratories and Research
  • P.O. Box 509
  • Albany, NY 12201-0509
  • Phone: 518-473-7552
  • Sickle Cell Trait--Sickle Cell Anemia: There is Quite a Difference
  • California State Department of Health
  • Childrens Medical Services Branch
  • Sacramento, CA 95814
  • Phone: 916-654-0499
  • Sickle Cell Anemia--What is It?
  • Cincinnati Comprehensive Sickle Cell Center
  • Children's Hospital Medical Center
  • Cincinnati, OH 45229
  • Phone: 513-559-4200
  • Your Child and Sickle Cell Disease
  • Mid-South Sickle Cell Center
  • Le Bonheur Children's Medical Center
  • Memphis, TN 38103
  • Phone: 901-522-6792
  • Help (resource book listing sources of care for patients with sickle cell disease in the United States, Puerto Rico and the Virgin Islands)
  • Sickle Cell Disease--how to help your child to take it in stride
  • A Parent/Teacher Guide
  • Viewpoints
  • Also available: Brochures on recent advances, newsletter on chapter activities, fact sheets, and brochures on sickle cell trait, anemia, and other topics, home study kit, games, and a video on parenting.
  • National Association for Sickle Cell Disease
  • 3345 Wilshire Blvd, Suite 1106
  • Los Angeles, CA 90010-1880
  • Phone: 800-421-8453
  • Thalassemia Information Sheet
  • Sickle Cell Anemia Public Health Information Sheet
  • March of Dimes
  • Birth Defects Foundation
  • 1275 Mamaroneck Avenue
  • White Plains, NY 10605
  • Brochure for Parents of Children with Sickle Cell Disease
  • Howard University
  • Comprehensive Sickle Cell Center
  • 2121 Georgia Ave
  • Washington DC 20059
  • Phone: 202-806-7930

Note: The above listings are not all inclusive. Additional material may be available from your own State or local health department, sickle cell agency, or community agency.

Availability of Guidelines

For each clinical practice guideline developed under the sponsorship of the Agency for Health Care Policy and Research (AHCPR), several versions are produced to meet different needs.

The Guideline Report contains the Clinical Practice Guideline with complete supporting materials, including background information, methodology, literature review, scientific evidence tables, and a comprehensive bibliography.

The Clinical Practice Guideline and the Quick Reference Guide for Clinicians are companion documents for use as desktop references for clinical decision making in the day-to-day care of patients. Recommendations, algorithms or flow charts, tables and figures, and pertinent references are included.

A Patient's Guide (for this guideline, a parent's guide), available in English and Spanish, is an informational booklet for the general public to increase consumer knowledge and involvement in health care decision making.

Guideline information also will be available for on-line retrieval through the National Library of Medicine, the National Technical Information Service, and some computer-based information systems of professional associations, nonprofit organizations, and commercial enterprises.

To order guideline products or to obtain further information on their availability, call the AHCPR Clearinghouse toll-free at 800-358-9295; from outside the United States only, call 301-495-3453; or write to: AHCPR Publications Clearinghouse, P.O. Box 8547, Silver Spring, MD 20907.

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