Rombout-Sestrienkova Eva, van Deursen Cees Th B M, Janssen Mirian C H, van Kraaij Marian G J, de Leeuw Peter W, Koek Ger H
Sanquin Bloedbank, unit klinisch consultatieve dienst, Maastricht, the Netherlands.
Ned Tijdschr Geneeskd. 2012;156(26):A4745.
With a prevalence of 0.4%, hereditary haemochromatosis is the most common autosomal-recessive genetic disease in Northern Europe. Hereditary haemochromatosis is characterized by an increase in the absorption of iron. This consequently leads to the excessive deposition of iron in tissues and organs with resultant functional impairment. Early-stage treatment can prevent complications resulting from the accumulation of iron. The standard treatment for hereditary haemochromatosis is phlebotomy, whereby 500 ml of whole blood is removed once a week until serum ferritin levels of 50-100 μg/l are achieved. After this, the patient must undergo lifelong maintenance treatment consisting of 3-6 phlebotomies per year on average. An alternative treatment is erythrocytapheresis, the selective removal of erythrocytes by way of apheresis. This procedure makes it is possible to collect more erythrocytes than during phlebotomy, resulting in significantly fewer treatment sessions being needed for the initial removal of overabundant iron.
遗传性血色素沉着症的患病率为0.4%,是北欧最常见的常染色体隐性遗传病。遗传性血色素沉着症的特点是铁吸收增加。这进而导致铁在组织和器官中过度沉积,从而造成功能损害。早期治疗可预防因铁蓄积而产生的并发症。遗传性血色素沉着症的标准治疗方法是放血疗法,即每周抽取500毫升全血,直至血清铁蛋白水平达到50 - 100微克/升。在此之后,患者必须接受终身维持治疗,平均每年进行3 - 6次放血。另一种治疗方法是红细胞单采术,即通过单采术选择性去除红细胞。该程序能够比放血疗法收集更多的红细胞,从而在最初清除过量铁时所需的治疗次数显著减少。