It resembles type 1 (HFE-related) haemochromatosis and presents with liver disease, hypogonadism, arthritis, diabetes, and skin pigmentation.
It is due to mutations of the transferrin receptor 2 gene (TFR2) on chromosome 7. These mutations lead to reduce expression of hepcidin which in turns causes iron excess through increased intestinal iron absorption and iron release from the spleen.
TFR2 related genetic haemochromatosis should be suspected in individuals with clinical features, symptoms, and laboratory features of iron overload in whom type 1 genetic haemochromatosis has been excluded.
Diagnosis is based of biochemical testing using serum ferritin and transferrin saturation. There is genetic testing available to test for this variant.
TFR2-related genetic haemochromatosis is rare with approximately 50 affected individuals have been reported worldwide, most commonly in Italy, Japan and Portugal.
It should be emphasized that since TFR2 genetic haemochromatosis is rare and therefore the condition may progress differently from Type 1 haemochromatosis, individual treatment is important.