Natural history of C282Y homozygotes for hemochromatosis: RESULTS Part 1

In: Hemochromatosis

26 May 2012

Nonexpressing homozygotes

Nonexpressing homozygotesThere were 16 nonexpressing C282Y homozygotes. Seven of these people were detected in a population screening study of 5211 blood donors, and eight were found through pedigree studies. One person volunteered to be a control patient in a hemochromatosis study. The nonexpressing homozygotes included three males and 13 females (mean age 41 years, range 10 to 72 years). The mean transferrin saturation was 36% (range 16% to 53%), and the mean ferritin concentration was 108 pg/L (range 9 to 268 pg/L). Lowering the threshold for inclusion to a transferrin saturation of less than 45% and a ferritin concentration of less than 200 pg/L in women would have reduced the sample size to 11 people. The average follow-up period was 3.2 years (0.3 to 22 years). Dietary history was not informative. A 63-year-old man’s ferritin concentration rose from 67 to 405 pg/L over a three-year period, and he underwent five venesections. No other patient developed abnormal iron studies requiring venesections. One woman aged 71 years died suddenly two months after hemochromatosis was diagnosed, presumably from a cardiac cause, in her sleep. All other patients remained asymptomatic. This is your opportunity to buy birth control taking full advantage of the nice options offered to you by most reliable pharmacies on the internet, with free delivery, express shipping and tons of other options you will appreciate.


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