Table 2  Summary of Clinical Penetrance and Diagnostic Rate of HH
Male (n = 222)   Female (n = 273)
p.[Cys282Tyr];[Cys282Tyr] (n = 47)   p.[Cys282Tyr];[His63Asp] (n = 175)   p Value   p.[Cys282Tyr];[Cys282Tyr] (n = 51)   p.[Cys282Tyr];[His63Asp] (n = 222)   p Value
Clinical
Diagnostic rate of HH  24.4% (11/45)  3.4% (6/174)  <0.001  14.0% (7/50)  2.3% (5/218)  <0.001
Liver disease  34.3% (12/35)  24.4% (29/119)  0.279  29.0% (9/31)  29.0% (42/145)  1
Liver biopsy (not incidental to gastric bypass)  10.9% (5/46)  1.8% (3/166)  0.013  9.1% (4/44)  2.0% (4/205)  0.035
Liver cirrhosisa  4.5% (2/44)  4.8% (8/166)  1  2.5% (1/40)  4.9% (10/203)  0.697
Other chronic liver diseaseb  7.0% (3/43)  6.7% (11/164)  1  0% (0/41)  7.8% (16/205)  0.081
Hepatocellular carcinoma  0% (0/46)  0% (0/169)  NA  0% (0/50)  0% (0/218)  NA
Congestive heart failure  21.7% (10/46)  16.8% (29/173)  0.515  18.4% (9/49)  8.7% (19/219)  0.067
Cardiomyopathy  6.7% (3/45)  7.5% (13/174)  1  4.1% (2/49)  1.8% (4/218)  0.304
Diabetes  44.7% (21/47)  28.0% (49/175)  0.034  12.0% (6/50)  19.5% (43/220)  0.308
Arthritis  29.5% (13/44)  35.3% (61/173)  0.594  26.0% (13/50)  30.3% (66/218)  0.609
Hypogonadism  2.2% (1/45)  1.8% (3/167)  1  NA  NA  NA
Family History
Family history of HH  8.1% (3/37)  0% (0/157)  0.006  6.7% (3/45)  1.5% (3/199)  0.078
Medications
Over-the-counter arthritis medications  17.0% (8/47)  20.0% (34/170)  0.835  24.0% (12/50)  24.2% (52/215)  1
Oral diabetes medications  27.7% (13/47)  18.6% (32/172)  0.221  7.8% (4/51)  16.0% (35/219)  0.184
Insulin  17.0% (8/47)  14.9% (26/174)  0.820  3.9% (2/51)  13.6% (30/220)  0.056
Physical Exam
Pain on palpation PIP or MCP joints  6.5% (3/46)  3.0% (5/166)  0.375  7.1% (3/42)  3.0% (6/201)  0.190
Skin pigmentation  4.4% (2/45)  1.2% (2/167)  0.199  2.4% (1/42)  2.5% (5/201)  1
Hepatomegaly  2.2% (1/46)  3.6% (6/165)  1  0% (0/41)  2.5% (5/201)  0.592
Ascites  4.3% (2/46)  1.8% (3/167)  0.295  0% (0/42)  2.5% (5/201)  0.591
Testicular atrophy  2.2% (1/45)  0% (0/161)  0.218  NA  NA  NA
Laboratories
AST > 80 u/l  2.5% (1/40)  12.4% (19/153)  0.082  8.5% (4/47)  8.9% (17/191)  1
ALT > 110 u/l  0% (0/35)  7.5% (10/133)  0.124  5.1% (2/39)  8.2% (13/158)  0.740
Transferrin saturation > 50%  100% (9/9)  37.5% (6/16)  0.003  50.0% (4/8)  37.5% (15/40)  0.695
Ferritin > 200 ng/ml (females); > 300 ng/ml (males)  77.8% (14/18)  33.3% (8/24)  0.006  30.8% (4/13)  30.2% (16/53)  1
Clinical features are arranged by genotype. The total number of individuals might vary for different variables as a result of missing or unavailable clinical data. Data are represented as a percentage, and the proportion of affected individuals is in parentheses. Abbreviations are as follows: ALT, alanine aminotransferase; AST, aspartate aminotransferase; HH, hereditary hemochromatosis; MCP, metacarpophalangeal; NA, not available; PIP, proximal interphalangeal.
a  Diagnosed by notes and ICD-9 code 571.
b  Diagnosed by notes, ICD-9 codes 571, 794.8, 790.4, and 790.6, and lab criteria (liver enzyme elevation for >6 months).