H63D Syndrome is clinically the iron sibling of Wilson's Disease

H63D Syndrome (all 3 types), is considered a very rare disorder that is difficult to recognize due to its multifaceted nature. Even with homozygous mutation of the HFE gene H63D and the simultaneous presence of the typical clinical symptoms, few clinicians dare to care for affected patients. This is inexplicable, because H63D Syndrome looked at on the meta-level is nothing more than Wilson disease caused by NTBI iron.

H63D综合征（共三种亚型）被视为一类极为罕见的疾病，因其表现具有多面性而难以确诊。即便患者存在HFE基因H63D纯合突变且同时伴有典型临床症状，仍鲜有临床医师敢于收治受累患者。这一状况令人费解，因为从元层面分析，H63D综合征不过是由非转铁蛋白结合铁（non-transferrin-bound iron，NTBI）所导致的威尔逊病。