Barton J C, Barton N H, Alford T J
Southern Iron Disorders Center, Brookwood Medical Center, Birmingham, Alabama, USA.
Am J Med. 1997 Dec;103(6):498-503. doi: 10.1016/s0002-9343(97)00276-3.
To evaluate factors that lead to the diagnosis of hemochromatosis probands in a community hospital, including education of physicians about hemochromatosis and iron overload, specialty of physicians, diagnostic indicators of hemochromatosis, and clinical manifestations of hemochromatosis probands.
We conducted a hemochromatosis education program for health care personnel associated with a community hospital and the public during 1990 to 1994. Data on physicians who diagnosed probands, diagnostic indicators of hemochromatosis, and manifestations of hemochromatosis and associated illnesses were tabulated. Iron grades of all hospital liver biopsy specimens obtained from Caucasian subjects during 1990 to 1994 were also analyzed.
We identified 162 hemochromatosis probands; 66.7% were diagnosed by physicians who participated in our education program. Primary care and internal medicine subspecialty physicians diagnosed 66.7% and 29.6% of probands, respectively, based on elevated serum iron parameters and hepatic enzyme concentrations (51.9% and 36.4% of probands, respectively). Iron overload occurred in 90.7%, and was associated with clinical manifestations in most. Of 844 hospital liver biopsy specimens from Caucasians, 8.5% had increased iron grades; 4.6% represented hemochromatosis.
Physicians with current education readily diagnose hemochromatosis probands during routine health care delivery, but most probands identified in this manner have iron overload. Our results suggest that community physicians and hospitals could contribute substantially to hemochromatosis screening programs, permitting detection of more homozygotes before the development of iron overload.
评估在一家社区医院中导致血色素沉着症先证者被诊断出来的因素，包括医生对血色素沉着症和铁过载的认知、医生的专业、血色素沉着症的诊断指标以及血色素沉着症先证者的临床表现。
1990年至1994年期间，我们为一家社区医院的医护人员及公众开展了一项血色素沉着症教育项目。将诊断先证者的医生的数据、血色素沉着症的诊断指标以及血色素沉着症及相关疾病的表现制成表格。还分析了1990年至1994年期间从白种人受试者身上获取的所有医院肝脏活检标本的铁分级情况。
我们确定了162例血色素沉着症先证者；66.7%是由参加我们教育项目的医生诊断出来的。基层医疗和内科亚专科医生分别根据血清铁参数升高和肝酶浓度升高诊断出66.7%和29.6%的先证者（分别占先证者的51.9%和36.4%）。90.7%的患者出现铁过载，且大多数伴有临床表现。在844份来自白种人的医院肝脏活检标本中，8.5%的标本铁分级增加；4.6%代表血色素沉着症。
接受过当前教育的医生在常规医疗服务过程中能够轻易诊断出血色素沉着症先证者，但以这种方式确定的大多数先证者都存在铁过载。我们的结果表明，社区医生和医院可以为血色素沉着症筛查项目做出重大贡献，从而在铁过载发生之前检测出更多纯合子。
