Leitman Susan F
1Department of Transfusion Medicine, National Institutes of Health, Bethesda, MD.
Hematology Am Soc Hematol Educ Program. 2013;2013:645-50. doi: 10.1182/asheducation-2013.1.645.
Hereditary hemochromatosis (HH) due to homozygosity for the C282Y mutation in the HFE gene is a common inherited iron overload disorder in whites of northern European descent. Hepcidin deficiency, the hallmark of the disorder, leads to dysregulated intestinal iron absorption and progressive iron deposition in the liver, heart, skin, endocrine glands, and joints. Survival is normal if organ damage is prevented by early institution of phlebotomy therapy. HH arthropathy is the symptom most affecting quality of life and can be debilitating. Genotype screening in large population studies has shown that the clinical penetrance of C282Y homozygosity is highly variable and can be very low, with up to 50% of women and 20% of men showing a silent phenotype. Targeted population screening for the HFE C282Y mutation is not recommended at present, but might be reconsidered as a cost-effective approach to management if counseling and care were better organized and standardized. Referral of patients to the blood center for phlebotomy therapy and use of HH donor blood for transfusion standardizes treatment, minimizes treatment costs, and may benefit society as a whole. Physician practices should be amended such that HH subjects are more frequently referred to the blood center for therapy.
由于HFE基因C282Y突变纯合导致的遗传性血色素沉着症（HH）是北欧血统白人中常见的一种遗传性铁过载疾病。该疾病的标志是铁调素缺乏，这会导致肠道铁吸收失调以及铁在肝脏、心脏、皮肤、内分泌腺和关节中进行性沉积。如果通过早期实施放血疗法预防器官损伤，患者的生存期正常。HH关节病是对生活质量影响最大的症状，可能使人虚弱。大规模人群研究中的基因型筛查表明，C282Y纯合的临床外显率高度可变，可能非常低，高达50%的女性和20%的男性表现为无症状表型。目前不建议针对HFE C282Y突变进行目标人群筛查，但如果咨询和护理能更好地组织和规范，作为一种具有成本效益的管理方法，可能会被重新考虑。将患者转诊至血液中心进行放血治疗，并使用HH献血者的血液进行输血，可使治疗标准化，将治疗成本降至最低，并可能使整个社会受益。应修改医生的做法，使HH患者更频繁地被转诊至血液中心进行治疗。
