Milman Nils Thorm
Rheumatologisk Klinik TA, Rigshospitalet, Blegdamsvej 9, 2100 København Ø, Denmark.
Ugeskr Laeger. 2013 Apr 15;175(16):1109-12.
Genetic haemochromatosis is a complex disorder/disease, which can be caused by a multiplicity of mutations in genes involved in iron metabolism being located on different chromosomes. In Caucasians, mutations in the HFE-gene account for the most common form of haemochromatosis (type 1). Non-HFE-haemochromatoses are less frequent and consist of juvenile haemochromatosis (type 2A and 2B) and TRF2-related haemochromatosis (type 3), which all respond to phlebotomies. The others comprise ferroportin disease (type 4A) atypical ferroportin disease (type 4B), acoeruloplasminaemia, atransferrinaemia and DMT1-associated haemochromatosis.
遗传性血色素沉着症是一种复杂的病症，它可能由位于不同染色体上的参与铁代谢的基因发生多种突变引起。在白种人中，HFE基因的突变导致了血色素沉着症最常见的形式（1型）。非HFE型血色素沉着症较为少见，包括青少年血色素沉着症（2A型和2B型）以及与转铁蛋白2（TRF2）相关的血色素沉着症（3型），这些类型对放血疗法均有反应。其他类型包括铁转运蛋白病（4A型）、非典型铁转运蛋白病（4B型）、无血浆铜蓝蛋白血症、无转铁蛋白血症以及与二价金属离子转运体1（DMT1）相关的血色素沉着症。
