Rankin M, Dixon J
Queensland Institute of Medical Research.
Aust Nurs J. 2000 Jun;7(11):suppl 1-3.
Hereditary haemochromatosis is prevalent in our society and requires vigorous and lifelong treatment. Diagnosis of the disorder may be delayed or missed due to its nonspecific symptoms and diverse manifestations. This can have lifelong consequences for the sufferer. Early diagnosis prevents severe organ damage and premature death and leads to a normal productive life. Screening family members will enable early diagnosis of those with the HFE gene mutation. The stigma attached to having a genetic condition may have consequences for job opportunities and for life and health insurance. Education of the community (including workplaces and employers) as well as health service providers will not only increase the likelihood of early diagnosis of haemochromatosis but will ease the social consequences of suffering from this disorder.
遗传性血色素沉着症在我们的社会中很普遍,需要积极且终身的治疗。由于其非特异性症状和多样的表现,该疾病的诊断可能会延迟或漏诊。这可能会给患者带来终身影响。早期诊断可预防严重的器官损伤和过早死亡,并能使患者过上正常而有意义的生活。对家庭成员进行筛查将有助于早期诊断出携带HFE基因突变的人。患有遗传性疾病所带来的污名化可能会对就业机会以及人寿和健康保险产生影响。对社区(包括工作场所和雇主)以及医疗服务提供者进行教育,不仅会增加早期诊断血色素沉着症的可能性,还将减轻患此病所带来的社会影响。