De Gobbi Marco, Roetto Antonella, Piperno Alberto, Mariani Raffaella, Alberti Federica, Papanikolaou George, Politou Marianna, Lockitch Gillian, Girelli Domenico, Fargion Silvia, Cox Thimoty M, Gasparini Paolo, Cazzola Mario, Camaschella Clara
Dipartimento di Scienze Cliniche e Biologiche, Università di Torino, Azienda Ospedaliera San Luigi, 10043 Orbassano, Turin, Italy.
Br J Haematol. 2002 Jun;117(4):973-9. doi: 10.1046/j.1365-2141.2002.03509.x.
Juvenile haemochromatosis or haemochromatosis type 2 is a rare autosomal recessive disorder which causes iron overload at a young age, affects both sexes equally and is characterized by a prevalence of hypogonadism and cardiopathy. Patients with haemochromatosis type 2 have been reported in different ethnic groups. Linkage to chromosome 1q has been established recently, but the gene remains unknown. We report the analysis of the phenotype of 29 patients from 20 families of different ethnic origin with a juvenile 1q-associated disease. We also compared the clinical expression of 26 juvenile haemochromatosis patients with that of 93 C282Y homozygous males and of 11 subjects with haemochromatosis type 3. Patients with haemochromatosis type 2 were statistically younger at presentation and had a more severe iron burden than C282Y homozygotes and haemochromatosis type 3 patients. They were more frequently affected by cardiopathy, hypogonadism and reduced glucose tolerance. In contrast cirrhosis was not statistically different among the three groups. These data suggest that the rapid iron accumulation in haemochromatosis type 2 causes preferential tissue damage. Our results clarify the natural history of the disease and are compatible with the hypothesis that the HFE2 gene has greater influence on iron absorption than other haemochromatosis-associated genes.
青少年血色素沉着症或2型血色素沉着症是一种罕见的常染色体隐性疾病，它会在年轻时导致铁过载，对男女的影响相同，其特征是性腺功能减退和心脏病的患病率较高。2型血色素沉着症患者在不同种族群体中均有报道。最近已确定与1号染色体q区连锁，但该基因仍不清楚。我们报告了对来自20个不同种族起源家庭的29例与青少年1号染色体q区相关疾病患者的表型分析。我们还比较了26例青少年血色素沉着症患者与93例C282Y纯合男性以及11例3型血色素沉着症患者的临床表型。2型血色素沉着症患者在就诊时统计学上更年轻，且铁负荷比C282Y纯合子和3型血色素沉着症患者更严重。他们更常受到心脏病、性腺功能减退和糖耐量降低的影响。相比之下，三组之间肝硬化在统计学上没有差异。这些数据表明，2型血色素沉着症中铁的快速积累会导致优先的组织损伤。我们的结果阐明了该疾病的自然史，并且与HFE2基因比其他血色素沉着症相关基因对铁吸收有更大影响的假设相符。
