Screening for Hereditary Hemochromatosis (HH)
We recommend that individuals with the H63D or S65C mutation in the absence of C282Y mutation should be counseled that they are not at increased risk of iron overload.
We suggest against further genetic testing among patients with iron overload who tested negative for the C282Y and H63D alleles.
We suggest a non–contrast-enhanced MRI (in conjunction with software used for the estimation of HIC (i.e., MRI T2*) be used to noninvasively measure liver iron concentration, in the non-C282Y homozygote with suspected HH. If there is a concomitant need to stage hepatic fibrosis or evaluate for alternate liver diseases, then liver biopsy is the preferred method to determine hepatic ion concentration (HIC).
We recommend against chelation as the first-line therapy for HH, given the effectiveness of phlebotomy, the associated side effects of chelation including hepatic and renal toxicity, and the relatively small sample size of clinical trials supporting chelation.
How strong is the ACG's recommendation?