Table 2. Genotypic Screening Yieldsa
Study, Year (Reference) |
Prevalence of C282Y Homo-zygotes |
Elevated Transferrin Saturation in Homozygotes |
Elevated Serum Ferritin Level in Homo-zygotes |
Patients with Iron Overload Due to Hereditary Hemo-chromatosis |
Patients with Diabetesb |
Patients with Other Diseases/ Elevated LFT Resultsb |
Fibrosis or Cirrhosisb |
|
Longitudinal: General population (2 studies) |
Andersen, et al., 200447 |
2.5/1000 |
Men: 5 of 7 (71%)
Women: 9 of 16 (56%)
(both tests elevated) |
Selected C282YY: ND
All C282YY: ND |
All C282YY: 1 of 23 (4.4%) |
Liver disease:
0 of 23
Hypogonadism:
0 of 23
Cardiomyopathy:
0 of 23
Arthralgia: 2 of 23
Subclinical
hemochromatosis:
1 of 23 |
ND |
Olynyk, et al., 200446 |
4/1000 |
Men: 4 of 4 (100%)
Women: 2 of 6 (33%)
(both tests elevated) |
Selected C282YY:
5 of 6 (83%)
All C282YY: 5
of 10 (50%) |
1 of 10 |
Arthralgia: 4 of 10 |
Selected C282YY: 3 of 6 (1
also consumed alcohol)
All C282YY: 3 of 10 (30%) |
|
Cross-sectional studies: General population (7 studies) |
|
Total population: n = 67,77132,51-56
Total patients with C282YY
studied: n = 282 |
4.2/1000 |
Men: 75%-94%
Women: 40%-94% |
Men: 58%-76%
Women: 54%-58% |
Selected
C282YYc: 26
of 69 (38%)
All C282YYc: 30
of 127 (24%) |
All C282YY:
0%-5.6% |
All C282YY: LFT,
ND |
Cirrhosis or fibrosis:d
Selected
C282YY: 5 of 16 (31%)
All C282YY: 5 of 72 (6.9%) Fibrosis:d
Selected C282YY: 4
of 16 (25%)
All C282YY: 4 of 72 (6%)
Cirrhosis:d
Selected C282YY:
1 of 16 (6%)
All C282YY: 1 of 72 (1.4%) |
|
Cross-sectional studies: Family history (2 studies) |
|
Barton, et al., 199957
Total sample: n = 150
Total patients with C282YY
studied: n = 25 |
161/1000 |
Men and
women: 87.5% |
Men and
women: 96% |
All C282YY: ND |
All C282YY: 16% |
All C282YY: ND |
Selected C282YY: ND
All C282YY: 2 of 25 (8%) |
|
Powell, et al., 200658
Relatives of probands; total
C282YY studied: n = 401 |
ND |
ND |
ND |
Men: Selected
C282YY: 82 of
111 (74%)
Women: Selected
C282YY: 46 of
74 (62%)
Men: All C282YY:
82 of 200
(41%)
Women: All
C282YY: 46 of
201 (23%) |
Men: All
C282YY: 2%
Women: All
C282YY: 3.5% |
Men: All C282YY: 24%
Women: All
C282YY: 7% |
Cirrhosis or fibrosis:
Men: Selected C282YY: 32 of 111 (29%)
Women: Selected C282YY: 5 of 74 (7%)
Men: All C282YY: 32 of 200 (16%)
Women: All C282YY: 5 of 201 (2%)
Fibrosis:
Men: Selected C282YY: 25 of
111 (23%)
Women: Selected C282YY: 3
of 74 (4%)
Men: All C282YY: 25 of 200
(13%)
Women: All C282YY: 3 of
201 (2%)
Cirrhosis:
Men: Selected C282YY: 7 of
111 (6%)
Women: Selected C282YY: 2
of 74 (3%)
Men: All C282YY: 7 of 200
(4%)
Women: All C282YY: 2 of
201 (1%) |
a. C282YY = C282Y/C282Y; LFT = liver function test; ND = no data reported or not acceptable.
b. Selected C282YY refers to percentage positive only in those tested; all C282YY refers to percentage positive in all patients with C282YY.
c. Data from references 32,52-55.
d. Data from references 52-54,56.
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