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. 2021 Oct 5;139(20):3018–3029. doi: 10.1182/blood.2021011338

Table 3.

Former classification of HC

Classification Gene involved and location Inheritance TSAT Other clinical features
Type 1 HFE; chr. 6 AR Increased Adult-onset; more severe in males; highly variable clinical expression, with predominant liver damage and arthritis
Type 2A HJV (hemojuvelin); chr. 1 AR Increased Earlier onset (eg, <30 y old); similar severity in both sexes; prevalent cardiac and endocrine involvement
Type 2B HAMP (hepcidin); chr. 19 AR Increased Earlier onset (eg, <30 y old); similar severity in both sexes; prevalent cardiac and endocrine involvement
Type 3 TFR2 (transferrin receptor 2); chr. 7 AR Increased Very rare (look for parental consanguinity); clinically similar to type 1, with an earlier onset
Type 4A SLC40A1 (ferroportin); chr. 2 AD Low-normal Adult-onset; IO in the spleen; mild anemia; possible low tolerance to venesection
Type 4B SLC40A1 (ferroportin); chr. 2 AD Increased Very rare; in general, clinically similar to type 1, but more severe/early onset forms are reported

AD, autosomal dominant; AR, autosomal recessive; chr., chromosome.