Implementation of ironXS: a study of the acceptability and feasibility of genetic screening for hereditary hemochromatosis in high schools

Abstract

Hereditary hemochromatosis (HH), most often due to HFE C282Y homozygosity, is an iron overload disorder that can result in severe morbidity including hepatic cirrhosis. Predisposition to HH is easily diagnosed and morbidity is preventable by maintaining normal body iron and thus calls have been made to introduce community screening. The current study has been designed to assess the acceptability and feasibility of HH screening in high schools. Students (mostly 15-16 years of age) watched a purpose-designed DVD for education about HH. Those with parental consent were then offered cheek-brush screening for C282Y. Students completed a questionnaire prior to screening. The program was offered to 9187 students at 32 schools and 3489 (38%) had screening. Nineteen C282Y homozygotes (1 in 183) and 376 heterozygotes (1 in 9.3) were identified. More than 90% of students answered each of five knowledge questions correctly. Eight homozygotes (42%) had elevated transferrin saturation, but only two (10.5%) had marginally elevated serum ferritin (SF). We have shown that genetic screening for HH can successfully be offered in the high school setting. Ongoing research in this study will answer questions about the impact of high school students learning that they are at risk of HH.

Serum ferritin values in primary care: are high values overlooked?

“…The major obstacles to a screening programme are the low penetrance of the C282Y genotype to the HHC phenotype and low uptake of molecular screening in pilot studies 2. There are also uncertainties regarding the most appropriate laboratory tests for phenotype screening of an asymptomatic population.…”

ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible

“…16 Briefly, students at randomly selected schools that represented the four main school types (urban and rural, government and non-government schools) were shown a purposely designed educational DVD. Following this, they were provided with a parent information pack to take home.…”

“…16 A follow-up questionnaire (Q2) was sent 1 month after receiving the test results to all YY and CY individuals, and to approximately one in seven randomly selected CC individuals. The questionnaires included previously validated or tested items: (1) demographic details (recorded in Q1); (2) the General Health Perception sub-scale of the Medical Outcomes Survey, SF-36 that measures self-assessed health status; 18 (3) the state component of the short form of the Spielberger State-Trait Anxiety Inventory, a measure of transitory anxiety; 19,20 (4) the Positive and Negative Affect Schedule (PANAS); 21,22 and (5) the intrusion sub-scale of the Impact of Event Scale, a tool that measures psychological response to a particular stressor as manifested by the extent of intrusive thoughts.…”

“…16 The concepts tested were knowledge of: (1) the aetiology of HH; (2) the symptoms of HH; (3) prevention and treatment for those at high risk of HH; and (4) penetrance of the C282Y substitution.…”

To tell or not to tell – what to do about p.C282Y heterozygotes identified by HFE screening

“…The first, HaemScreen, was conducted in workplaces (2,3) whereas the second, ironXS, recruited subjects in high schools (4,5). The first, HaemScreen, was conducted in workplaces (2,3) whereas the second, ironXS, recruited subjects in high schools (4,5).…”