Table 5.
Homozygote frequency | 1 in 200 |
Carrier frequency (N. Europeans) | Approx. 1 in 10 |
Disease expression: males to females | Approx. 5 : 1 (juvenile cases show equal sex ratio) |
Other modifying factors | Alcohol (approx. 80% of established cases) underlying red blood cell disorders, such as spherocytosis, β-thalassemia |
Age of onset | >40-year-long presymptomatic period |
Clinical features | Nonspecific fatigue; asthenia; joint pains; loss of libido and impotence; diabetes mellitus; liver enlargement; increased skin pigmentation; cardiac disease; increased risk of hepatocellular carcinoma. |
Treatment | Phlebotomy and/or iron chelators. |
Prognosis | Untreated disease shortens life; treatment before cirrhosis develops compatible with normal life expectancy. |