Article
TFR2-related haemochromatosis in the Netherlands: a cause of arthralgia in young adulthood.
The Netherlands journal of medicine - 1 Mar 2017
Peters T M A, Meulders A F M, Redert K, Cuijpers M L H, Rennings A J M, Janssen M C H, Blijlevens N M A, Swinkels D W
Abstract excerpt
BACKGROUND: Type 3 hereditary haemochromatosis (HH) is a rare iron overload disorder caused by variants in the transferrin 2 receptor (TFR2) gene. We aim to present characteristics of patients diagnosed with TFR2-HH in the Netherlands, in order to increase knowledge and awareness of this disease. METHODS: We collected clinical, biochemical and genetic data from four patients from three families diagnosed with HH...
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