The HEIRS Study screened 101,168 primary care participants for iron overload with serum transferrin saturation (TS), serum ferritin (SF), and C282Y and H63D mutations of the HFE gene. The objective ...of this study was to evaluate the impact of screening on participants' well-being.
All C282Y homozygotes, participants with an elevated TS and SF concentration, and a control group of phenotype-genotype negative persons, with neither C282Y nor H63D mutations in the HFE gene were recalled for a clinical evaluation. Health-related quality of life was assessed before screening and approximately 1 week after receipt of the results. Health worries were assessed only at follow-up.
Participants (N = 1478) completed both initial and follow-up surveys. After adjusting for model covariates, phenotype and genotype combinations were statistically significant predictors of changes in psychological well-being (P = 0.0001) and general health (P = 0.0014). C282Y homozygotes with transient elevations in TS or SF were significantly more likely to worry about their health compared to study controls. Race, ethnicity, and preferred language subgroups differed on psychological well-being, general health, and health worry.
Iron phenotype and HFE genotype are associated with health-related quality of life. Health worry was greatest among those considered genetically "at risk. " This may have important implications for multi-ethnic population-based screening studies in which genotype and phenotype are communicated.
Genetic screening can enable timely detection and treatment of hereditary hemochromatosis (HH). Little is known about patient acceptability of DNA testing as compared to conventional phenotypic ...testing.
Within the HEIRS Study, a large primary-care screening study of HH and iron overload, we randomly assigned participants to receive brief information on either HH genotypic or phenotypic testing, and assessed the willingness to accept this test. The study was designed to recruit an equal number of African Americans and Caucasians.
A total of 2500 participants were recruited from waiting rooms of primary care practices; 2165 participants who self-identified as African Americans and Caucasians were included in the analyses. Overall, 56% had accepted a genotypic test versus 58% for a phenotypic test. Adjusting for Field Center (FC), age, gender, race, educational attainment, global health rating, and knowledge of the test, the odds ratio of accepting a genotypic versus phenotypic test was 0.85 (95% CI: 0.71, 1.02; P = 0.078). Characteristics associated with test acceptance were age 45–64 years, female gender, Caucasian race, self-rated health less than “very good”, and knowledge of the test. Test acceptance was associated with interest in knowing more about health (81%) and in helping family members (71%). Refusal reasons included a need to talk with a doctor (44%), concern about privacy (32%), and dislike of blood drawing (29%).
In this diverse sample of primary care patients, stated acceptance of genotypic testing for HH mutations was similar to phenotypic testing for blood iron. Patient education regarding the nature of test, importance of disease detection, and privacy protection appear to be essential for achieving high rates of screening participation.
We compared initial screening transferrin saturation (TfSat) and serum ferritin (SF) phenotypes and HFE C282Y and H63D genotypes of 645 Native American and 43,453 white Hemochromatosis and Iron ...Overload Screening Study participants who did not report a previous diagnosis of hemochromatosis or iron overload. Elevated measurements were defined as TfSat >50% in men and >45% in women and SF >300 ng/ml in men and >200 ng/ml in women. Mean TfSat was 31% in Native American men and 32% in white men (p = 0.0337) and 25% in Native American women and 27% in white women (p < 0.0001). Mean SF was 153 µg/l in Native American and 151 µg/l in white men (p = 0.8256); mean SF was 55 µg/l in Native American women and 63 µg/l in white women (p = 0.0015). The C282Y allele frequency was 0.0340 in Native Americans and 0.0683 in whites (p < 0.0001). The H63D allele frequency was 0.1150 in Native Americans and 0.1532 in whites (p = 0.0001). We conclude that the screening TfSat and SF phenotypes of Native Americans are similar to those of whites. The allele frequencies of HFE C282Y and H63D are significantly lower in Native Americans than in whites.
The objective of this study was to describe the smoking histories, patterns of cigarette use, and quitting behaviors in a predominantly African American sample of older adults. Study participants ...were a convenience sample of senior center attendees in the Washington, DC metropolitan area. Self-report questionnaires were used to measure depression, nicotine dependence, smoking motives, and readiness to quit. Results showed that living with another smoker increased the likelihood of current smoking (odds ratio=2.07, 95% CI=1.72–36.73). Being employed or seeking work was also associated with a higher likelihood of current smoking (odds ratio=2.73, 95% CI=2.00–118.76). Subjects who reported less frequent participation in organized religious activities were also more likely to smoke (odds ratio=2.04, 95% CI=1.17–50.38). Both former and current smokers identified personal will power and physician advice as the two most influential factors in successful smoking cessation. However, current smokers believed that nicotine replacement would aid in a successful cessation attempt, while former smokers did not endorse the efficacy of these products. The findings are discussed in terms of implications for intervention.
Genetic and environmental hypotheses may explain why normotensive persons at high risk of developing hypertension often exhibit greater cardiovascular reactivity to stressors than those at low risk.
...Pearson's correlation was used to evaluate reproducibility and independent t test to compare the cardiovascular responses to 30 W of exercise of normotensive young adult African-American women with positive and negative parental histories (PH) of hypertension (PH, n = 23; PH, n = 20).
Correlations were significant for duplicate measurements. The effects of PH on blood pressure measured at rest and during exercise were not statistically significant (P > 0.1). A nearly significant trend for greater resting (.-)VO(2) (P = 0.08) was detected in the PH than in the PH group (3.67 +/- 0.18 versus 3.26 +/- 0.14 mL/kg/min).
A hyper-reactive blood pressure response to exercise, characteristic of the evolution of hypertension, may not be present among the normotensive female offspring of hypertensive African Americans. The significance of an 11% intergroup difference in the mean resting (.-)VO(2) observed in this study is unclear.
This preliminary investigation examined the predictive accuracy of six neuropsychological tests in a population of non-brain-injured African Americans. False positives were unacceptably high on five ...of the neuropsychological tests administered. These pilot data raise important questions about the utility of neuropsychological test norms with groups dissimilar in sociocultural background to the normative population. These findings are examined in terms of the relative merits of the race-homogenous and race-comparative paradigms and underscore the importance of conducting normative studies that involve ethnic minority populations.
Studies of patients with unilateral lesions report hemisphere-specific and locus-specific impairments on Russell's (1975) Revision of the Wechsler Memory Scale (RWMS). In the current investigation ..."race-homogeneous" and "race-comparative" paradigms provide the context in which the generalizability of RWMS findings are examined in a population of African Americans with unilateral lesions.
The performances of brain-damaged patients were impaired relative to normal controls on five of the six RWMS measures. However, patients with left and right hemisphere damage in our sample did not differ systematically on RWMS subtests. Likewise, among patients with lesions confined to one of the quadrants in the brain, there were no quadrant group differences in performance on RWMS subtests. But, right posteriors were impaired relative to controls on immediate and delayed VR subtests. The relative merits of the race-comparative and race-homogeneous paradigms are considered in the context of these findings.
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