Is there a cost effective screening strategy that incorporates genetic testing for relatives of hereditary hemochromatosis patients?
Screening for Hereditary Hemochromatosis in Siblings and Children of Affected Patients: A Cost Effectiveness Analysis, El Serag, et al, Annals of Internal Medicine 132(4): 261-269 This study compared the cost effectiveness of no screening with 4 different screening strategies. Strategies were as follows: No Screening Iron Studies: Serum transferrin and ferritin were measured in children of proband starting at age 10 and repeated every 5 years for negative tests every 5 years. Siblings were screened once. Gene test proband/spouse/children: The proband was gene tested. If homozygous, the spouse was tested. If the spouse was heterozygous, the children were also tested. If the children were homozygous, they entered the iron study protocol (above). Gene test proband/relatives: The proband was gene tested. If homozygous, the children and siblings were tested. If the children/siblings were homozygous, they entered the iron study protocol (above). Gene test relatives: Relatives were gene teste