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Sickle Cell Disease and Trait Protocol

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Sickle Cell Disease and Trait Protocol In addition to parts of Africa, South America, the Caribbean and South-East Asia, people whose ancestors are from the shaded parts of the world are more likely to have hemoglobin variants such as S, C, E, or B-Thalassemia. SICKLE CELL DISEASE AND TRAIT CLINICAL AND COUNSELING PROTOCOL (CHILDREN 0-6 YEARS) HAWAI`I Adapted from Genetic Disease Branch, Newborn Screening Program, 5/05 Published by: The Hawai`i State Department of Health Family Health Services Division Children with Special Health Needs Branch, Genetics Program May 2007 28 1 Acknowledgements The Hawai`i Sickle Cell Project wishes to thank the volunteer members of the Hawai`i State Department of Health project’s Advisory Committee, particularly the family representatives, for their Linda Lingle, Governor of Hawai`i Chiyome Leinaala Fukino, M.D., Director of Health time and efforts. Without their input, this protocol would not have been developed for the use of health care providers throughout Hawai`i. We also wish to acknowledge the generous technical assistance from the California Genetic Disease Branch Newborn Screening Program, Children’s Hospital and Research Center at Oakland Sickle Cell Disease Program, Sickle Cell Disease Foundation of California and the Sickle Cell Disease Association of Questions or Comments? America National Coordinating and Evaluation Center. Thank you for sharing For more information, please contact the Hawai`i State Genetics Program at 808-733-9055 or you can visit our website at www.hawaiigenetics.org your materials, ideas and energy with us. Funded by: Mahalo Nui Loa!! The project is a cooperative agreement funded by the U.S. Department of Health and Human Services, Health Resources and Services Administration MCH Project #5-H46-MC04463-02-00 Nondiscrimination in Services: The Hawai`i Department of Health provides access to its activities without regard to race, color, national origin (including language), age, sex, religion, or disability. If you believe you have been discriminated against, write the State Department of Health Affirmative Action Officer at P.O. Box 3378, Honolulu, HI 96801. 2 27 TABLE OF CONTENTS RESOURCES INTRODUCTION..................................................................................................................4 For more information about Sickle Cell Disease and What is Sickle Cell Disease.....................................................................................5 Sickle Cell Trait, please visit the following websites: NEWBORN SCREENING IDENTIFICATION AND FOLLOW-UP............................6 American Academy of Pediatrics Health Supervision Guidelines Protocol Overview....................................................................................................6 http://aappolicy.aappublications.org/cgi/content/full/pediatrics;109/3/526 Recommended Community Follow-Up...................................................................7 GENETIC COUNSELING FOR SICKLE CELL DISEASE (SCD) AND SICKLE Gene Reviews CELL TRAIT (SCT).............................................................................................................8 http://www.geneclinics.org/query?dz=sickle Basic Content for all Sickle Cell Disease Sessions.................................................8 Basic Content for all Sickle Cell Trait Sessions....................................................10 March of Dimes Intended Learning Outcomes for Counselee.........................................................11 http://www.marchofdimes.com/professionals/681_1221.asp Instructional and Educational Techniques.............................................................12 Medline Plus MEDICAL MANAGEMENT ISSUES..............................................................................13 http://www.nlm.nih.gov/medlineplus/sicklecellanemia.html Frequent Doctor/Clinic Visits............................................................................…13 Common Laboratory Tests................................................................................…13 National Heart Lung and Blood Institute Immunizations...................................................................................................…14 http://www.nhlbi.nih.gov/health/dci/Diseases/Sca/SCA_WhatIs.html Pneumonia.........................................................................................................…15 Penicillin Prophylaxis........................................................................................…15 Transfusions.......................................................................................................…16 National Human Genome Research Institute Nutrition.............................................................................................................…16 http://www.genome.gov/10001219 Fever..................................................................................................................…17 Pain Episodes.....................................................................................................…17 National Office of Public Health Genomics: Problems with the Spleen..................................................................................…18 http://www.cdc.gov/genomics/hugenet/reviews/sickle.htm Problems with Kidneys and Urine.....................................................................…19 Gallstones..........................................................................................................…19 Sickle Cell Disease Association of America Stroke.................................................................................................................…19 http://www.sicklecelldisease.org Delayed Growth.................................................................................................…19 Priapism.............................................................................................................…19 Sickle Cell Information Center Activities............................................................................................................…20 http://www.scinfo.org In Case of Emergency........................................................................................…20 n RECOMMENDATIONS FOR PRIMARY CARE PHYSICIANS.................................21 d Comprehensive Care Plan for Children with SCD............................................…21 Physical Examination........................................................................................…23 Laboratory Evaluation.......................................................................................…23 Special Studies...................................................................................................…24 Brain......................................................................................................…24 Lungs.....................................................................................................…24 REFERENCES.....................................................................................................................25 RESOURCES.......................................................................................................................26 . 26 3 Introduction REFERENCES As an activity of the Hawai`i Sickle Cell Project (funded by a Health Resources and Services American Academy of Pediatrics, Section on Hematology/Oncology, Committee on Genetics. Administration grant), this protocol was developed for distribution to Emergency Departments, Health Supervision for Children with Sickle Cell Disease. Pediatrics. March 2002;109 primary care physicians, nurses, allied health workers, and health clinics in Hawai`i. This (3):526-535. protocol sets forth a program for identifying, diagnosing, and treating newborns and infants Lessing S, Vichinsky E. (editors). A Parents’ Handbook for Sickle Cell Disease: Part 1 Birth to with sickle cell disease or sickle cell trait. It also recommends education and counseling strate- Six Years of Age. California Department of Health Services Genetic Disease Branch. 1998. gies for parents and caregivers. It is intended that this protocol will provide basic information to those caring for individuals with Sickle Cell disease or Sickle Cell trait in Hawai`i. The Management of Sickle Cell Disease. NIH Publication No. 02-2117. 188 pages. Revised May28, references listed at the end of the protocol include detailed medical management and health 2002 (Forth Edition) National Institutes of Health, National Heart, Lung, and Blood Institute. supervision information, for those wishing to research further. The Optimizing Primary Stroke Prevention in Sickle Cell Anemia (STOP 2) Trial Investigators. Discontinuing Prophylactic Transfusions Used to Prevent Stroke in Sickle Cell Disease. NEJM. Dec 29 2005; 26 (353):2769-2778. 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. 4 25 Recommendations for Primary Care Physicians Introduction Typically, children should have the following routine clinical laboratory evaluations: What is Sickle Cell Disease? Age Test Frequency Sickle Cell disease (SCD) is an inherited blood disorder 3 – 24 months CBC with WBC differential every 3 months that results in abnormal hemoglobin. Hemoglobin is a > 24 months CBC with WBC differential every 6 months component of red blood
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