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DRS McDONNELL and Parrish echo the concerns of many that the natural history of the disorder must be clarified prior to adopting population screening for hemochromatosis. However, it is unlikely that we will ever obtain this information from prospective studies: we doubt that observational natural history studies of iron-loaded cases of hemochromotosis will ever be approved by an institutional review board, especially given the safety and efficacy of phlebotomy treatment.
The authors refer to 2 recent studies suggesting a low penetrance of the HFEgene in their argument against population screening. However, ascertainment and incomplete evaluation may affect the penetrance estimates in these studies because of exclusion of known homozygotes and infrequent use of liver biopsy.
Dubois S, Kowdley KV. Rebuttal by Drs Dubois and Kowdley. Arch Intern Med. 2003;163(20):2427. doi:10.1001/archinte.163.20.2427
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