To Your Good Health
BY KEITH ROACH, M.D.
DEAR DR. ROACH: Why aren’t all people screened for genetic hemochromatosis? It is the most common inherited disease. The tests are simple and would save so much suffering and massive payments for care. I know people who suffer from cardiac, liver or lung problems; diabetes; severe joint pain; fatigue; and many other problems. Early treatment is essential. Awareness must be raised. — G.Z.
ANSWER: Genetic (hereditary) hemochromatosis is indeed a common but little-known genetic condition. It is the most common among those of European ancestry, while sickle cell anemia is more prevalent in those of African descent.
It is caused by a single gene mutation that makes the gut absorb as much iron as possible, when normally we stop absorbing it at times when we don’t need it. The excess iron may overload the liver, eventually leading to cirrhosis. Iron also may build up in the heart (causing heart failure), pancreas (causing diabetes), joints (causing arthritis) and other organs. Treatment is easy: It’s one of the last diseases to be treated with phlebotomy (blood removal). If treatment is begun early, certainly before cirrhosis starts, nearly all symptoms can be averted (though joint pains generally stay).
There is not a consensus that screening for hereditary hemochromatosis is worthwhile. Many people identified by screening are unlikely to progress to clinical disease. Further, the cost is high — estimated to be over $100,000 to find one case of the potentially life-threatening disease.
A 2006 study from Australia, however, did show that the condition can be found in the population and that treatment can reverse the damage found in those who screened positive. Policymakers await further studies to decide whether to recommend universal screening.
In the meantime, people with a family history for hereditary hemochromatosis should definitely be screened. The type of screening test depends on age and sex. More importantly, clinicians should be aware of this condition and should consider the diagnosis in people with nonspecific symptoms, especially fatigue. Both men and women are affected by hereditary hemochromatosis, although men typically are affected earlier. People with Celtic ancestry are at particularly high risk.