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. 2020 Nov 24;324(20):1–10. doi: 10.1001/jama.2020.21566

Table 2. Incident Disease and Death During Follow-up in a Study of the Association of Hemochromatosis HFE p.C282Y Homozygosity With Hepatic Malignancya.

Characteristics No. (%)
Males Females
C282Y +/+ C282Y+/H63+ No variants C282Y +/+ C282Y+/H63+ No variants
Total participantsb (n = 1294) (n = 4955) (n = 122 860) (n = 1596) (n = 5746) (n = 145 719)
Hemochromatosis diagnosis at baseline 156 (12.1) 29 (0.6) 30 (<0.1) 54 (3.4) 12 (0.2) 8 (<0.1)
Hemochromatosis diagnosis at the end of follow-up (baseline or incident) 327 (25.3) 89 (1.8) 74 (0.1) 200 (12.5) 35 (0.6) 25 (<0.1)
Follow-up time, median (IQR), y 8.9 (8.3-9.5) 8.9 (8.3-9.5) 8.9 (8.3-9.5) 9.0 (8.4-9.5) 8.9 (8.3-9.5) 8.9 (8.3-9.5)
Incident diagnoses
Noncancer liver disease 48 (3.7) 80 (1.6) 1598 (1.3) 23 (1.5) 68 (1.2) 1433 (1.0)
Fibrosis and cirrhosis 17 (1.3) 16 (0.3) 264 (0.2) 4 (0.3) 9 (0.2) 229 (0.2)
Alcoholic liver disease 8 (0.6) 18 (0.4) 309 (0.3) 4 (0.3) 2 (<0.1) 77 (0.1)
Chronic hepatitis 1 (0.1) 2 (<0.1) 23 (<0.1) 1 (0.1) 1 (<0.1) 26 (<0.1)
Hepatitis B 0 3 (0.1) 44 (<0.1) 1 (0.1) 1 (<0.1) 11 (<0.1)
Hepatitis C 0 2 (<0.1) 53 (<0.1) 1 (0.1) 0 14 (<0.1)
Liver carcinomas (primary) 20 (1.6) 10 (0.2) 174 (0.1) 3 (0.2) 4 (0.1) 129 (0.1)
Hepatocellular carcinoma 14 (1.1) 7 (0.1) 81 (0.1) 1 (0.1) 0 30 (<0.1)
Intrahepatic bile duct carcinoma 5 (0.4) 3 (0.1) 63 (0.1) 0 3 (0.1) 69 (0.1)
Death
All-cause 88 (6.8) 260 (5.3) 6560 (5.3) 60 (3.8) 154 (2.7) 4362 (3.0)
Noncancer liver disease 1 (0.1) 5 (0.1) 141 (0.1) 0 2 (<0.1) 43 (<0.1)
Liver carcinomas 14 (1.1) 6 (0.1) 102 (0.1) 3 (0.2) 3 (0.1) 78 (0.1)
Participants with primary care recordsc (n = 612) (n = 2297) (n = 56 425) (n = 770) (n = 2754) (n = 67 916)
Incident diagnosis
Noncancer liver disease 42 (7.1) 64 (2.8) 1448 (2.6) 22 (2.9) 70 (2.6) 1305 (1.9)
Fibrosis and cirrhosis 14 (2.3) 10 (0.4) 148 (0.3) 4 (0.5) 6 (0.2) 151 (0.2)
Alcoholic liver disease 9 (1.5) 12 (0.5) 272 (0.5) 4 (0.5) 4 (0.2) 72 (0.1)
Liver carcinomas (primary) 12 (2.0) 3 (0.1) 75 (0.1) 1 (0.1) 1 (<0.1) 62 (0.1)
Hepatocellular carcinoma 6 (1.0) 3 (0.1) 31 (0.1) 0 0 16 (<0.1)
Intrahepatic bile duct carcinoma 4 (0.7) 0 31 (0.1) 0 1 (<0.1) 31 (0.1)
a

Excluding individuals with each prevalent diagnosis at baseline only (eg, the incident liver cancer analysis included participants with baseline noncancer liver disease). p.C282Y heterozygous, p.H63D heterozygous and p.H63D homozygous individuals are not shown (see eTable 3 in the Supplement for details).

b

Total sample (n = 451 186) with follow-up data from Hospital Episode Statistics, the Cancer Registry, and death records.

c

Subset of participants (n = 209 811) with additional follow-up data available from primary care records.