Research Article

Autoimmune Conditions in 235 Hemochromatosis Probands with HFE C282Y Homozygosity and Their First-Degree Relatives

Table 2

Autoimmune conditions in 35 hemochromatosis probands1.

ConditionPercentage ()

Hashimoto’s thyroiditis254.3 (19)
Rheumatoid arthritis311.4 (4)
Ankylosing spondylitis45.7 (2)
Mixed connective tissue disorder5.7 (2)
Myasthenia gravis5.7 (2)
Pernicious anemia5.7 (2)
Sarcoidosis5.7 (2)
Ulcerative colitis5.7 (2)
Autoimmune hemolytic anemia52.9 (1)
Crohn’s disease2.9 (1)
Elevated antinuclear antibody62.9 (1)
Graves’ disease2.9 (1)
Polymyalgia rheumatica2.9 (1)
Primary biliary cirrhosis2.9 (1)
Psoriasis 2.9 (1)
Raynaud’s phenomenon2.9 (1)
Scleroderma 2.9 (1)
Sjögren’s syndrome2.9 (1)
Systemic lupus erythematosus2.9 (1)

1Six probands had two or more autoimmune conditions. Two men had both Hashimoto’s thyroiditis and pernicious anemia. One woman had both Hashimoto’s thyroiditis and Crohn’s disease. One woman had Hashimoto’s thyroiditis, polymyalgia rheumatica, and systemic lupus erythematosus. One woman had Hashimoto’s thyroiditis, Raynaud’s phenomenon, sarcoidosis, scleroderma, and Sjögren’s syndrome. One woman had both ulcerative colitis and biliary cirrhosis.
2Of 235 probands, 14 women and 5 men had Hashimoto’s thyroiditis (8.1% 5.1, 12.5).
3Of 235 probands, 2 men and 2 women had rheumatoid arthritis (1.7% 0.6, 4.6).
4Of 235 probands, 2 men had ankylosing spondylitis (0.0085 0.0015, 0.0337).
5Mediated by IgG and complement.
6This proband had anti-nuclear antibody >1 : 320 without other manifestation of autoimmunity. Elevated anti-nuclear antibodies (>1 : 80) in other probands were interpreted as part of broader autoimmune condition diagnoses named separately.