Camaschella Clara, Roetto Antonella, De Gobbi Marco
Dipartimento di Scienze Cliniche e Biologiche, Azienda Ospedaliera San Luigi, Università di Torino, 10043 Orbassano Turin, Italy.
Best Pract Res Clin Haematol. 2002 Jun;15(2):261-76. doi: 10.1016/s1521-6926(02)90207-0.
Haemochromatosis is an autosomal recessive disorder common among Caucasians that leads to iron overload. Molecular studies have shown that the disease is prevalently due to a mutation in the HFE gene. Although C282Y in the homozygous state remains the most common patient's genotype, other genes and genetic mutations are associated with haemochromatosis. Haemochromatosis type 2, a severe form with juvenile onset, is due to mutations in an unidentified gene on chromosome 1q. Haemochromatosis type 3 is linked to a locus on 7q22 and is due to mutations in the transferrin receptor 2. Haemochromatosis type 4, the only autosomal dominant form, is caused by mutations in ferroportin 1 on 2q32. The genes responsible for African and neonatal forms of iron overload are still unknown. The identification of all of the genes associated with haemochromatosis is critical for molecular-based diagnosis and central to our understanding of the regulation of iron homeostasis.
血色素沉着症是一种在白种人中常见的常染色体隐性疾病，会导致铁过载。分子研究表明，该疾病主要是由HFE基因突变引起的。虽然纯合状态的C282Y仍然是最常见的患者基因型，但其他基因和基因突变也与血色素沉着症有关。2型血色素沉着症是一种严重的青少年发病形式，是由1号染色体q臂上一个未确定的基因突变引起的。3型血色素沉着症与7号染色体q22上的一个位点相关，是由转铁蛋白受体2基因突变引起的。4型血色素沉着症是唯一的常染色体显性形式，由2号染色体q32上的铁转运蛋白1基因突变引起。导致非洲人和新生儿铁过载形式的基因仍然未知。识别所有与血色素沉着症相关的基因对于基于分子的诊断至关重要，也是我们理解铁稳态调节的核心。
