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Vol. 17, No. 3, 2014
Issue release date: June 2014
Section title: Original Paper
Public Health Genomics 2014;17:169-172
(DOI:10.1159/000360260)

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

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 9/21/2013
Accepted: 2/3/2014
Published online: 3/28/2014

Number of Print Pages: 4
Number of Figures: 0
Number of Tables: 2

ISSN: 1662-4246 (Print)
eISSN: 1662-8063 (Online)

For additional information: http://www.karger.com/PHG

Abstract

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.


  

Author Contacts

William J. Blot, PhD
Division of Epidemiology, Department of Medicine
Vanderbilt University Medical Center
1161 21st Avenue S, Nashville, TN 37232 (USA)
E-Mail william.j.blot@vanderbilt.edu

  

Article Information

Received: September 21, 2013
Accepted after revision: February 3, 2014
Published online: March 28, 2014
Number of Print Pages : 4
Number of Figures : 0, Number of Tables : 2, Number of References : 19

  

Publication Details

Public Health Genomics

Vol. 17, No. 3, Year 2014 (Cover Date: June 2014)

Journal Editor: Brand A.M. (Maastricht)
ISSN: 1662-4246 (Print), eISSN: 1662-8063 (Online)

For additional information: http://www.karger.com/PHG


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 9/21/2013
Accepted: 2/3/2014
Published online: 3/28/2014

Number of Print Pages: 4
Number of Figures: 0
Number of Tables: 2

ISSN: 1662-4246 (Print)
eISSN: 1662-8063 (Online)

For additional information: http://www.karger.com/PHG


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