Solís-Herruzo J A
Servicio de Medicina de Aparato Digestivo. Hospital Universitario 12 de Octubre. Madrid. Spain.
Rev Esp Enferm Dig. 2003 May;95(5):351-7, 343-50.
When suspecting an iron overload condition, the transferrin saturation levels should be determined. Levels higher than 45% and serum ferritin in men and postmenopausal women exceeding 200 microg/l confirm the iron overload. Afterwards, the HFE protein genotype should be determined. If it is C282Y or C282Y/H63D, the diagnosis of hereditary hemochromatosis can be accepted as the cause of the iron overload. In the absence of said genotypes, the overload is secondary or not related to the HFE protein. In hereditary hemochromatosis, the degree of iron overload and organic lesions must be established. Liver biopsies are very useful for obtaining said information and for the first case, the determination of serum ferritin is very useful. When less than 1000 microg/l, normal transaminases and no hepatomegalies, a treatment can be started without the need for a liver biopsy. In absence of anemia, the treatment is based on phlebotomies, 400-500 ml a week until obtaining depletion of excess iron. In presence of anemia, the treatment is based on chelating agents, preferably subcutaneous administered 8 hours a day.
怀疑存在铁过载情况时，应测定转铁蛋白饱和度水平。男性和绝经后女性转铁蛋白饱和度水平高于45%且血清铁蛋白超过200μg/L可确诊铁过载。之后，应测定HFE蛋白基因型。如果是C282Y或C282Y/H63D，则遗传性血色素沉着症可被认定为铁过载的病因。若不存在上述基因型，则铁过载为继发性或与HFE蛋白无关。对于遗传性血色素沉着症，必须明确铁过载程度和器质性病变情况。肝活检对于获取上述信息非常有用，对于第一种情况，测定血清铁蛋白也很有用。当血清铁蛋白低于1000μg/L、转氨酶正常且无肝肿大时，可不进行肝活检而开始治疗。无贫血时，治疗基于放血疗法，每周400 - 500ml，直至多余铁被耗尽。存在贫血时，治疗基于螯合剂，最好每天皮下给药8小时。
