Bhavnani M, Lloyd D, Marples J, Pendry K, Worwood M
Department of Haematology, Royal Albert Edward Infirmary, Wigan, UK.
J Clin Pathol. 2006 May;59(5):501-4. doi: 10.1136/jcp.2005.031898.
To evaluate the clinical utility of a targeted screening approach for the detection of genetic haemochromatosis.
Screening by measuring fasting serum transferrin saturation (TS) and gene testing was carried out in patients in whom a raised serum alanine amino transferase (ALT) activity and raised random serum TS had been found on routine blood testing.
During the 29 month study period, 32 patients homozygous for the C282Y genotype were detected from a catchment population of 330,000 by screening blood samples referred initially for routine laboratory liver function tests. By comparison, during the same period of time and within the same population, only seven patients were found by clinical suspicion alone. The patients in the study, after treatment by venesection, have shown both clinical and biochemical improvement.
The study shows that from a population of patients in whom a routine liver function profile had been requested, it is possible to detect subjects homozygous for the C282Y HFE genotype who have clinical or biochemical markers of iron overload.
评估一种针对遗传性血色素沉着症检测的靶向筛查方法的临床实用性。
对那些在常规血液检测中发现血清丙氨酸氨基转移酶（ALT）活性升高且随机血清转铁蛋白饱和度（TS）升高的患者，通过测量空腹血清转铁蛋白饱和度（TS）和进行基因检测来进行筛查。
在为期29个月的研究期间，通过对最初送检进行常规实验室肝功能检测的血样进行筛查，从33万的目标人群中检测出32例C282Y基因型纯合子患者。相比之下，在同一时期的同一人群中，仅通过临床怀疑仅发现7例患者。研究中的患者在接受放血治疗后，临床和生化指标均有改善。
该研究表明，从一群已要求进行常规肝功能检查的患者中，有可能检测出具有铁过载临床或生化标志物的C282Y HFE基因型纯合子个体。
