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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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