Response to García-Morillo et al.
Article first published online: 14 MAR 2005
Journal of Internal Medicine
Volume 257, Issue 4, page 391, April 2005
How to Cite
Harper, P., Floderus, Y., Holmström, P., Eggertsen, G. and Gåfvels, M. (2005), Response to García-Morillo et al. Journal of Internal Medicine, 257: 391. doi: 10.1111/j.1365-2796.2005.01464.x
- Issue published online: 14 MAR 2005
- Article first published online: 14 MAR 2005
We indeed found a high frequency of C282Y HFE mutation in our group of Swedish patients with sporadic PCT, but nowhere have we stated that these individuals had haemochromatosis or iron overload. Furthermore, we lacked any information about the iron status for most of the patients, which was a disadvantage in our study.
Taking in consideration the Nordic origin of the patients, we did find a high representation of H63D HFE mutation in our PCT population, mostly in the group of patients with the familial form of the disease. We have though speculated that the H63D HFE mutation may have importance in iron homeostasis and the outcome of overt PCT due to its overrepresentation in this group. We did refer to the study by Sampietro et al. (Hepatology 1998; 27: 181–4) that have pointed to the importance of just this mutation in Italian patients with PCT (i.e. people from the Mediterranean area).