Prospective Studies Of Phlebotomy Therapy In Hereditary

血色素沉着症患者是一个充足而愿意输血的血液来源。最近联邦法规的变化放宽了对血色病受试者输血的限制，但是，没有数据可以指导献血中心环境中的放血治疗。我们建立并评估了一个在献血中心治疗血色素沉着症患者的计划，并使他们的血液可用于输血。无论受试者是否符合同种异体献血标准，均免费进行放血治疗。血红蛋白12.5 g/dL用作进行静脉切开术的阈值，MCV的降低用于指导治疗终点。130例受试者连续入组：74%为HFE基因C282 Y突变纯合子，76%符合同种异体献血的合格标准，55%为既往献血者。在MCV达到低于基线3%的目标终点之前（此时铁蛋白低于30 mcg/L，转铁蛋白饱和度低于30%），每周或每两周进行一次中位20次静脉切开术（范围7-99）。在维持治疗期间，将MCV保持在该水平所需的中位放血间隔为10周。在1，402次献血中，没有发生输血传播疾病病原体的血清转化事件。所有病毒因子检测呈阳性的受试者均有可推迟风险的既往史。截至2003年9月，血色素沉着病供体贡献了NIH临床中心收集的15%的红细胞单位用于同种异体用途。由于NIH血色素沉着病患者的稳定贡献，在其他医院的区域血液供应处于极低水平时，没有必要推迟手术或从外部供应商处获取血液。我们的数据表明，血色素沉着症患者可以安全和显着地增加同种异体血液供应。提供不受成本或捐赠适合性考虑限制的放血疗法可以改善获得护理的机会，并消除不完全风险披露的激励因素。 目前的努力集中在通过单采术捐献双红细胞在HH受试者管理中的作用的关键检查，优化使用红细胞指数的变化作为放血治疗终点的指南，描述放血治疗对关节炎症状的影响，以及评估治疗期间血清非转铁蛋白结合铁水平的变化。

Persons with hemochromatosis constitute a plentiful and willing source of blood for transfusion. Recent changes in federal regulations have eased restrictions on the use of blood from hemochromatosis subjects for transfusion, however, no data exist to guide the performance of phlebotomy therapy in a blood donor center setting. We established and evaluated a program for treating persons with hemochromatosis in a donor center, and making their blood available for transfusion. Phlebotomy therapy was performed free of charge regardless of whether subjects met criteria for allogeneic donation. Hemoglobin of 12.5 g/dL was used as the threshold for performing phlebotomy and decreases in the MCV were used to guide the endpoints of therapy. One hundred thirty subjects were consecutively enrolled: 74% were homozygous for the C282Y mutation in the HFE gene, 76% met eligibility criteria for allogeneic donation, and 55% were previous blood donors. A median of 20 weekly or biweekly phlebotomies (range 7-99) were performed before the MCV reached the targeted endpoint of 3% below baseline, at which time the ferritin was less than 30 mcg/L and the transferrin saturation less than 30%. The median phlebotomy interval necessary to keep the MCV at this level during maintenance therapy was 10 weeks. No incident seroconversions for agents of transfusion-transmissible disease occurred during 1,402 donations. All subjects testing positive for viral agents gave a prior history of deferrable risk. As of September 2003, hemochromatosis donors were contributing 15% of the red cell units collected for allogeneic use in the NIH Clinical Center. Due to the steady contributions of NIH hemochromatosis donors, it was not necessary to postpone surgery or acquire blood from outside suppliers during periods of low inventory, at a time when regional blood supplies were at critically low levels in other hospitals. Our data demonstrate that hemochromatosis subjects can safely and significantly augment the allogeneic blood supply. Provision of phlebotomy therapy unrestricted by considerations of cost or suitability for donation can improve access to care and remove incentives for incomplete risk disclosure. Current efforts are focused on critical examination of the role of double red cell donation by apheresis in the management of HH subjects, on optimizing the use of changes in red cell indices as a guide to the endpoints of phlebotomy therapy, on delineating the effect of phlebotomy therapy on arthritic symptoms, and on assessing changes in serum non-transferrin bound iron levels during therapy.