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Discordance between self-report and genetic confirmation of sickle cell disease status in African-American adults
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2014
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Source: Public Health Genomics. 17(3):169-172
[PDF-117.23 KB]
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Alternative Title:Public Health Genomics
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Description: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 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 (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.
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Pubmed ID:24685557
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Pubmed Central ID:PMC4394647
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Volume:17
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Issue:3
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