Correspondence

Screening for Hemochromatosis

N Engl J Med 1993; 329:2037-2038December 30, 1993

Article

To the Editor:

Edwards and Kushner (June 3 issue)1 advocate universal screening for presymptomatic hemochromatosis. Such screening would probably identify 10 times the number of people with this condition now identified. This recommendation is based on their view that hemochromatosis should be defined genetically rather than clinically, as is currently the standard, and the fact that early intervention with an effective and inexpensive treatment (phlebotomy) is possible. Identifying asymptomatic persons at risk, they argue, is likely to result in lower morbidity and an increased life span. Unfortunately, this approach may also increase the likelihood of adverse genetic discrimination.

The authors have downplayed the potential for a person given a diagnosis of hemochromatosis to be discriminated against by insurers. Evidence from our ongoing study of genetic discrimination (defined as differences in treatment arising from knowledge of a person's genetic makeup) indicates that people with hemochromatosis have experienced unjustified difficulties2 (and unpublished data). Insurers frequently refuse to cover phlebotomy treatments despite their low cost. People without symptoms are unable to obtain insurance (health, life, disability, and mortgage) and even employment once their diagnosis is known. Insurance policies have been canceled on the grounds that hemochromatosis is a “preexisting condition,” even in healthy people. In some cases, unaffected spouses and dependents have been denied insurance because the disorder has been diagnosed in a relative. The contention that screening “identifies a large prospective pool of healthy blood donors” is ironic, given the fact that current Red Cross policy prohibits such people from donating blood.

Our results also indicate that such people may avoid genetic counseling and screening because they believe that disclosure of genetic information will complicate their lives. Moreover, informing insurers that persons with treated hemochromatosis are at no greater risk for death than the general public has proved ineffective; these people continue to be considered to be “substandard” risks or uninsurable despite published data3,4.

Hemochromatosis meets the classic criteria for a condition for which population screening could be beneficial; it is common, harmful, and amenable to treatment after early identification, and a reliable, inexpensive testing method exists. Under present social conditions, however, instituting such a screening program is likely to cause additional problems. Appropriate safeguards should be in place before any screening program is implemented.

Paul R. Billings, M.D., Ph.D.
Palo Alto Veterans Affairs Medical Center, Palo Alto, CA 94304

Carol Barash, Ph.D.
Shriver Center for Mental Retardation, Waltham, MA 02254

Lisa N. Geller, Ph.D.
Harvard Medical School, Boston, MA 02115

Joseph S. Alper, Ph.D.
University of Massachusetts, Boston, MA 02125-3393

4 References

1. 1

   Edwards CQ, Kushner JP. Screening for hemochromatosis. N Engl J Med 1993;328:1616-1620
   Full Text | Web of Science | Medline

2. 2

   Billings PR, Kohn MA, de Cuevas M, Beckwith J, Alper JS, Natowicz MR. Discrimination as a consequence of genetic testing. Am J Hum Genet 1992;50:476-482
   Web of Science | Medline

3. 3

   Krikker MA. Can individuals with latent (precirrhotic) hemochromatosis be accepted at standard rates? J Insur Med 1986;17:6-8
   

4. 4

   Witte DL, Kay BR. Hemochromatosis 1991: what will increased clinical screening mean for medical directors? J Insur Med 1991;23:281-283
   Medline

To the Editor:

Ferritin is an acute-phase protein, and its concentration is elevated nonspecifically in a variety of disorders. An elevated concentration should be interpreted in relation to the concentration of another acute-phase protein (such as alpha-antichymotrypsin) measured at the same time.

Gerald A. Maguire, Ph.D.
Addenbrooke's Hospital, Cambridge CB2 2QR, United Kingdom

Author/Editor Response

The authors reply:

To the Editor: Billings et al. appear to agree fully with our conclusion that hemochromatosis meets the classic criteria for a condition for which population screening would be beneficial. They advise, however, that screening programs not be implemented until safeguards against “genetic discrimination” are in place. Their main argument centers around anecdotal references to insurance companies' denying coverage to healthy people found to be homozygous for hemochromatosis on screening tests. We have encountered similar problems in approximately 20 homozygotes identified through our screening program. Our persistence with insurance companies has resulted in coverage for most but not all of these healthy homozygotes. We cite two reports that have documented that healthy homozygotes who undergo prophylactic phlebotomies have a normal life expectancy1,2. We have considered advising such people identified through screening to deny the presence of hemochromatosis when filling out insurance questionnaires. These questionnaires generally inquire about the presence of a disease. In the case of hemochromatosis, the term implies organ dysfunction due to iron overload. A more appropriate solution, however, is to lobby state insurance commissions to institute regulations incorporating the genetic definition of hemochromatosis (homozygosity for the hemochromatosis gene) in order to distinguish it from the disease definition.

We believe that screening for hemochromatosis should be promoted while efforts are under way to convince insurance companies to accept the genetic definition and to expect that the life span will be normal with prophylactic phlebotomies. Because homozygosity for hemochromatosis is so common3 the number of health problems prevented because of screening will be much greater than the number of problems with insurance.

Billings et al. question our suggestion that screening for hemochromatosis would identify a large pool of prospective blood donors. The Standards Committee of the American Association of Blood Banks has made provisions for blood obtained in therapeutic phlebotomies to be used for allogeneic transfusions4. It is indeed ironic that a recent change in Red Cross policy prohibits the use of blood from all therapeutic phlebotomies. With regard to people with hemochromatosis, this issue is not related to the safety of the blood but rather to the potential for a financial inducement to influence homozygotes to donate blood. The argument runs that they would normally be charged for therapeutic phlebotomies but a donation is free. We can think of no safer source of blood than healthy homozygotes identified through screening. They undergo a thorough medical evaluation, and many undergo biopsies to establish the absence of liver disease. They can serve as donors with “proof of health.”

Corwin Q. Edwards, M.D.
James P. Kushner, M.D.
University of Utah School of Medicine, Salt Lake City, UT 84132

4 References

1. 1

   Niederau C, Fischer R, Sonnenberg A, Stremmel W, Trampisch HJ, Strohmeyer G. Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis. N Engl J Med 1985;313:1256-1262
   Full Text | Web of Science | Medline

2. 2

   Adams PC, Speechley M, Kertesz AE. Long-term survival analysis in hereditary hemochromatosis. Gastroenterology 1991;101:368-372
   Web of Science | Medline

3. 3

   Edwards CQ, Griffen LM, Goldgar D, Drummond C, Skolnick MH, Kushner JP. Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. N Engl J Med 1988;318:1355-1362
   Full Text | Web of Science | Medline

4. 4

   Therapeutic phlebotomy. In: Standards for blood banks and transfusion services. 15th ed. Bethesda, Md.: American Association of Blood Banks, 1993:9.
   

Citing Articles (1)

Citing Articles

1. 1

   Mary M. Hulihan, Cindy A. Sayers, Scott D. Grosse, Cheryl Garrison, Althea M. Grant. (2011) Iron Overload. American Journal of Preventive Medicine 41:6, S422-S427
   CrossRef