Heterozygous BMP6 Variants Coupled With HFE Variants

We are in agreement with Daher et al1 in finding hemochromatosis patients with moderate iron overload who are heterozygous for mutations in the BMP6 pro-peptide. Our unit carries out comprehensive genetic testing for disorders of iron metabolism. This entails a pipeline, the first step of which is to test for the p.Cys282Tyr mutation in the HFE gene. We find approximately 20% of patients are not homozygous for this hemochromatosis-associated mutation. In particular, patients of non-European ancestry fall into this non-C282Y group.

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