Amy Nisselle

Iron-overload-related disease in HFE hereditary hemochromatosis.

BACKGROUND Most persons who are homozygous for C282Y, the HFE allele most commonly asssociated with hereditary hemochromatosis, have elevated levels of serum ferritin and transferrin saturation. Diseases related to iron overload develop in some C282Y homozygotes, but the extent of the risk is controversial. METHODS We assessed HFE mutations in 31,192 persons of northern European descent between the ages of 40 and 69 years who participated in the Melbourne Collaborative Cohort Study and were followed for an average of 12 years. In a random sample of 1438 subjects stratified according to HFE genotype, including all 203 C282Y homozygotes (of whom 108 were women and 95 were men), we obtained clinical and biochemical data, including two sets of iron measurements performed 12 years apart. Disease related to iron overload was defined as documented iron overload and one or more of the following conditions: cirrhosis, liver fibrosis, hepatocellular carcinoma, elevated aminotransferase levels, physician-diagnosed symptomatic hemochromatosis, and arthropathy of the second and third metacarpophalangeal joints. RESULTS The proportion of C282Y homozygotes with documented iron-overload-related disease was 28.4% (95% confidence interval [CI], 18.8 to 40.2) for men and 1.2% (95% CI, 0.03 to 6.5) for women. Only one non-C282Y homozygote (a compound heterozygote) had documented iron-overload-related disease. Male C282Y homozygotes with a serum ferritin level of 1000 mug per liter or more were more likely to report fatigue, use of arthritis medicine, and a history of liver disease than were men who had the wild-type gene. CONCLUSIONS In persons who are homozygous for the C282Y mutation, iron-overload-related disease developed in a substantial proportion of men but in a small proportion of women.

Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis

HFE-associated hereditary haemochromatosis is a recessive, iron-overload disorder that affects about one in 200 north Europeans and that can be easily prevented. However, genetic screening for this disease is controversial, and so we assessed whether such screening was suitable for communities. Cheek-brush screening for the Cys282Tyr HFE mutation was offered to individuals in the workplace. Outcomes were assessed by questionnaires before and after testing. 11,307 individuals were screened. We recorded no increase in anxiety in individuals who were homozygous for the Cys282Tyr mutation or non-homozygous. Self-reported tiredness before testing was significantly higher in homozygous participants than in non-homozygous participants (chi2 test, p=0.029). Of the 47 homozygous individuals identified, 46 have taken steps to treat or prevent iron accumulation. Population genetic screening for HFE-associated hereditary haemochromatosis can be practicable and acceptable.

Accessing Flexible Learning Opportunities: Children's and Young People's use of Laptops in a Paediatric Hospital

Hospitalised children and young people not only face challenges to their health but also to their continued education and social connections. These challenges can impact on future life trajectories, so it is crucial to maintain learning and socialising. Educational technologies, such as laptops and iPads, are used in the multidisciplinary educational programme provided to patients at the Royal Children’s Hospital, Melbourne. This paper reports on the use of laptops by 71 patients at the hospital, who represented a range of ages, gender, home location and type of hospital admission (short, long, infrequent and frequent). Surveys revealed these technologies were used throughout the hospital with use varying according to the stage of development; however, restrictions to academic and social networking sites were problematic. The results highlight how educational technologies can provide access to flexible learning opportunities and socialising for hospitalised children and young people.

Asymptomatic individuals at genetic risk of haemochromatosis take appropriate steps to prevent disease related to iron overload

Background/Aims: If community screening for hereditary haemochromatosis is to be considered, compliance with preventative measures and absence of significant psychological morbidity must be demonstrated.

Lessons from a Science Education Portal

Doing your best on the Web requires attending to search engines, answering hard questions, and making cybertools accessible to a broad audience. When Cold Spring Harbor Laboratorys DNA Learning Center (DNALC) launched its Web site in 1996, www.dnalc.org, we did not foresee that it would grow into a portal for 18 content sites reaching more than seven million visitors per year. The evolution of our multimedia efforts and the challenges along the way provide lessons for building learning resources or to attract larger audiences.

Transforming Children's Health Spaces into Learning Places.

Purpose – Chronic health conditions can cause children extended school absences, creating significant barriers for continued education. Out‐of‐school learning environments, such as hospitals, provide opportunities to maintain childrens learning identities during school absences. This paper seeks to present an example of hospital‐based teaching and learning and to explore the challenges of providing child‐centred learning opportunities in this environment.Design/methodology/approach – A case study narrative describes the underpinnings of child‐centred teaching and learning within a childrens hospital. The “Around the World” learning activity is used to discuss the challenges and strategies when fostering learning environments for children with diverse needs.Findings – The paper highlights how pedagogy is apparent in a childrens health setting. Reflective teacher practice translated pedagogical principles into dynamic, situated learning activities that engaged children visiting a hospital Out‐patients ar...

Why do people choose not to have screening for hemochromatosis

AIM Hemochromatosis is a common disorder of iron overload most commonly due to homozogosity for the HFE C282Y substitution. A workplace-screening program was conducted in which over 11,000 individuals were screened for this mutation. A substudy of this project was to ascertain why people chose not to attend information and screening sessions offered in their workplace. METHOD Staff were recruited by email, questionnaires in common areas, and direct approach. A purpose-designed questionnaire sought the reasons for not attending information and screening sessions. RESULTS The nonattender questionnaire was distributed at 24 workplaces and completed by 872 individuals. The most common reason for not attending sessions, accounting for 70.1%, was practical (e.g., unaware of session, too busy, or unavailable). Other relatively common reasons were that the individual had low iron levels or were a blood donor (14.9%), or that hemochromatosis was considered unimportant (12.2%). Insurance concerns were very rarely cited as the reason for nonattendance (1.0%). CONCLUSION The nonattender data presented here indicate that concerns about insurance, anxiety, and use of genetic information are not major factors for why people did not attend workplace information and screening sessions for hereditary hemochromatosis. Practical barriers were the major reasons identified. This highlights that when implementing screening programs, as many practical barriers as possible need to be overcome, so that a maximum number of people who would like to be informed about screening are given the opportunity to do so.