Table 4. Prevalence of C282Y Homozygosity in High-Risk Groupsa
Study, Year (Reference) |
Risk Group Definition |
Population |
C282Y/C282Y, n/n (%) |
Barton, et al., 199957 |
Relatives of persons with iron overload |
Offspring of proband |
5/36 (14) |
Parents of proband |
3/16 (19) |
Sibling of proband |
14/42 (33) |
Poullis, et al.,
200363 |
Outpatients referred to a liver clinic for
investigation of liver disease |
Liver clinic |
12/667 (1.8) |
Transferrin saturation >0.45 |
11/156 (7.1) |
Cadet, et al.,
200361 |
Patients presenting with conditions possibly
related to hemochromatosis |
Rheumatology clinic |
1/221 (0.45) |
Diabetes mellitus |
7/121 (5.8) |
Transferrin saturation >0.40 |
7/106 (6.6) |
Specialty setting: fatigue/arthritis |
13/227 (5.7) |
Serum ferritin level >300 µg/L |
13/75 (17.3) |
Health appraisal: healthy volunteers |
2/991 (0.2) |
Primary care |
0/60 (0) |
Swinkels, et al.,
200266 |
Self-referred patients fulfilling criteria for
chronic fatigue syndrome (n = 88) |
Patients with chronic fatigue syndrome and increased
transferrin saturation and serum ferritin levels |
0/8 (0) |
Deugnier, et al.,
200251 |
Patients attending health appraisal center
who noted risk factor on questionnaire |
Men |
Chronic fatigue |
7/828 (0.85) |
No chronic fatigue |
3/2180 (0.14) |
Women |
Chronic fatigue |
12/2253 (0.53) |
No chronic fatigue |
28/3361 (0.83) |
Men |
ALT level increased |
1/176 (0.57) |
ALT level not increased |
9/3181 (0.28) |
Women |
ALT level increased |
3/322 (0.62) |
ALT level not increased |
42/5694 (0.74) |
Waalen, et al.,
200262 |
Noted history of heart attack, angina
pectoris, or ICD-9 code 410 or 412 in
medical record |
Men |
CHD |
3/1798 (0.17) |
No CHD |
65/8540 (0.76) |
Women |
CHD |
3/1074 (0.28) |
No CHD |
65/9117 (0.71) |
Willis, et al.,
200265 |
Patients with inflammatory arthritis |
Patients with arthritis |
5/1000 (0.5) |
Controls |
5/1000 (0.5) |
a. ALT = alanine aminotransferase; CHD = coronary heart disease; ICD-9 = International Classification of Diseases, Ninth Revision.
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