Table 4Longitudinal studies of disease development in C282Y homozygotes

ScreeningIron OverloadMorbidity
Study RefPopulationCriteria*/sequenceResultsCriteria*ResultsDefinitiionResultsQuality
Olynyk, 2004 52 Retrospective examination of 3011 randomly selected subjects (ages 20–79 y) from Busselton cohort genotyped in 1998. Available data: 1981, 1994, & 1998 HFE genotype16/3011 C282YY, 4 previously diagnosed and undergoing TP. These 4 excluded. Serum available on 10/12.>90 μm/g5/6 biopsied in 1998Fibrosis (6 biopsied)2/6Good
Elevated Iron
Parameters
TS > 45%
1981: 3 of 9
Median age: 30 y
1994: 9 of 10
Median age: 43 y
1998: 10 of 10
Cirrhosis1 of 6 (cirrhotic patient drank > 6 alcohol drinks/day)
SF > 300Median age: 47 yDM1 subject at 19 yr thought unrelated to HC
1981: 5/10Possible Iron OverloadArthralgia4/10
1994: 5/10
4/5 were same
M: TS >50, SF > 3004/4 (calculated)
1998: 6/10F: TS >45, SF >2002/6 (calculated)
Andersen, 2004 53 Retrospective cohort from Copenhagen Heart study 1976-2001 n = 9,174 White: > 99%47% (9,174/19,698) of original Copenhagen study population HFE Genotype C282Y:C282Y23/9174Possible Iron Overload Criteria:DM1/23 (4%)Fair
TS > 50 in 2001
SF > 250 in 2001
SF> 200 in 2001
20 still alive
M: 5/7, F: 13/16
M: 6/7
F: 10/16
M: TS >50, SF >300, and CE

F: TS >45, SF >200, and CE
5/7 (calculated)

9/16 (calculated
Liver disease as defined by
AST > 50
Alk phos >275
Coag < 70%
Bili > 17
Clinical workups in 2001 for liver
disease, hypogonadism,
cardiomyopathy
For arthralgias
0/23 (0%)
Iron measure progression: (1976-2001) Liver biopsies not doneSubclinical HC0/23
Transferrin Saturation
Female Mean age: 25 y
Mean age: 85 y
Male Mean age: 35 y
Mean age: 80 y
Mean: 50
Mean: 70
Mean: 70
Mean: 80
2/23
Serum Ferritin
Female Mean age: 25 y
Mean age: 85 y
Male Mean age: 35 y
Mean age: 80 y
Mean: 120
Mean: 500
Mean: 800
Mean: 400
1/23
*

Criteria defined in Table 2.Selected C282YY-% positives in subset of C282Y homozygotes tested; All C282YY-% positives in all C282Y homozygotes.C282YY- C282Y/C282Y; NHANES-National Health and Nutrition Examination Survey ; TS-transferrin saturation; SF-serum ferritin; DM-diabetes mellitus; HR-; M-male; F-female; HIO-hepatic iron index; HIC-hepatic iron content; TP-therapeutic phlebotomy; Med-median; HC-hemochromatosis; AST-aspartate aminotransferase; Alk phos-alkaline phosphatase; Coag-coagulation tests; Bili-bilirubin.

From: 3, Results

Cover of Screening for Hereditary Hemochromatosis
Screening for Hereditary Hemochromatosis: A Focused Evidence Review [Internet].
Evidence Syntheses, No. 43.
Whitlock EP, Garlitz BA, Harris EL, et al.

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