Journal Mobile Options
Table of Contents
Vol. 17, No. 3, 2014
Issue release date: June 2014
Public Health Genomics 2014;17:169-172

Discordance between Self-Report and Genetic Confirmation of Sickle Cell Disease Status in African-American Adults

Bean C.J. · Hooper W.C. · Ellingsen D. · DeBaun M.R. · Sonderman J. · Blot W.J.
aDivision of Blood Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Ga., bVanderbilt-Meharry-Matthew Walker Center of Excellence in Sickle Cell Disease, and cDivision of Epidemiology, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tenn., and dInternational Epidemiology Institute, Rockville, Md., USA

Individual Users: Register with Karger Login Information

Please create your User ID & Password

Contact Information

I have read the Karger Terms and Conditions and agree.

To view the fulltext, please log in

To view the pdf, please log in


Background: Sickle cell disease (SCD) is an autosomal recessive genetic disorder, with persons heterozygous for the mutation said to have the sickle cell trait (SCT). Serious adverse effects are mainly limited to those with SCD, but the distinction between disease and trait is not always clear to the general population. We sought to determine the accuracy of self-reported SCD when compared to genetic confirmation. Methods: From stratified random samples of Southern Community Cohort Study participants, we sequenced the β- globin gene in 51 individuals reporting SCD and 75 individuals reporting no SCD. Results: The median age of the group selected was 53 years (range 40-69) with 29% male. Only 5.9% of the 51 individuals reporting SCD were confirmed by sequencing, with the remaining 62.7% having SCT, 5.9% having hemoglobin C trait, and 25.5% having neither SCD nor trait. Sequencing results of the 75 individuals reporting no SCD by contrast were 100% concordant with self-report. Conclusions: Misreporting of SCD is common in an older adult population, with most persons reporting SCD in this study being carriers of the trait and a sizeable minority completely unaffected. The results from this pilot survey support the need for increased efforts to raise community awareness and knowledge of SCD. © 2014 S. Karger AG, Basel

Copyright / Drug Dosage

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.


  1. Hassell KL: Population estimates of sickle cell disease in the U.S. Am J Prev Med 2010;38(suppl 4):S512-S521.
  2. Bender MA, Hobbs W: Sickle cell disease; in Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds): GeneReviews. Seattle, University of Washington, 1993-2003.
  3. Ashley-Koch A, Yang Q, Olney RS: Sickle hemoglobin (Hbs) allele and sickle cell disease: a HuGE review. Am J Epidemiol 2000;151:839-845.
  4. Creary M, Williamson D, Kulkarni R: Sickle cell disease: current activities, public health implications, and future directions. J Womens Health (Larchmt) 2007;16:575-582.
  5. Yusuf HR, Lloyd-Puryear MA, Grant AM, Parker CS, Creary MS, Atrash HK: Sickle cell disease: the need for a public health agenda. Am J Prev Med 2011;41(6 suppl 4):S376-S383.
  6. Steiner CA, Miller JL: Sickle cell disease patients in U.S. Hospitals, 2004. Statistical brief #21; in Healthcare Cost and Utilization Project (HCUP) Statistical Briefs. Rockville, Agency for Health Care Policy and Research (US), 2006.
  7. Grant AM, Parker CS, Jordan LB, Hulihan MM, Creary MS, Lloyd-Puryear MA, Goldsmith JC, Atrash HK: Public health implications of sickle cell trait: a report of the CDC meeting. Am J Prev Med 2011;41(6 suppl 4):S435-S439.
  8. Key NS, Derebail VK: Sickle-cell trait: novel clinical significance. Hematology Am Soc Hematol Educ Program 2010;2010:418-422.
  9. Boyd JH, Watkins AR, Price CL, Fleming F, DeBaun MR: Inadequate community knowledge about sickle cell disease among African-American women. J Natl Med Assoc 2005;97:62-67.

    External Resources

  10. Lane JC, Scott RB: Awareness of sickle cell anemia among negroes of Richmond, VA. Public Health Rep 1969;84:949-953.
  11. Signorello LB, Hargreaves MK, Steinwandel MD, Zheng W, Cai Q, Schlundt DG, Buchowski MS, Arnold CW, McLaughlin JK, Blot WJ: Southern community cohort study: establishing a cohort to investigate health disparities. J Natl Med Assoc 2005;97:972-979.

    External Resources

  12. Signorello LB, Hargreaves MK, Blot WJ: The Southern Community Cohort Study: investigating health disparities. J Health Care Poor Underserved 2010;21(suppl 1):26-37.
  13. Centers for Disease Control and Prevention, Department of Health and Human Services: Sickle cell disease: data and statistics. 2013.
  14. Treadwell MJ, McClough L, Vichinsky E: Using qualitative and quantitative strategies to evaluate knowledge and perceptions about sickle cell disease and sickle cell trait. J Natl Med Assoc 2006;98:704-710.

    External Resources

  15. Manley AF: Legislation and funding for sickle cell services, 1972-1982. Am J Pediatr Hematol Oncol 1984;6:67-71.

    External Resources

  16. Young WI, Peters J, Houser HB, Jackson EB Jr: Awareness of sickle cell abnormalities. A medical and lay community problem. Ohio State Med J 1974;70:27-30.

    External Resources

  17. Long KA, Thomas SB, Grubs RE, Gettig EA, Krishnamurti L: Attitudes and beliefs of African-Americans toward genetics, genetic testing, and sickle cell disease education and awareness. J Genet Couns 2011;20:572-592.
  18. Kusyk D, Acharya K, Garvey K, Ross LF: A pilot study to evaluate awareness of and attitudes about prenatal and neonatal genetic testing in postpartum African American women. J Natl Med Assoc 2013;105:85-91.

    External Resources

  19. Acharya K, Lang CW, Ross LF: A pilot study to explore knowledge, attitudes, and beliefs about sickle cell trait and disease. J Natl Med Assoc 2009;101:1163-1172.

    External Resources

Pay-per-View Options
Direct payment This item at the regular price: USD 33.00
Payment from account With a Karger Pay-per-View account (down payment USD 150) you profit from a special rate for this and other single items.
This item at the discounted price: USD 23.00