Screening programs for hemochromatosis which include follow-up identification of relatives are thought to be cost effective.
In this study, researchers from Australia, England and Wales assessed uptake of screening by first-degree relatives.
The team looked at 2 groups of index cases. They examined blood donors who were homozygous for the C282Y mutation, as well as patients presenting clinically with hemochromatosis.
|Only 24% of the homozygous blood donors relatives had been tested for hemochromatosis.|
They found that only 24% of the blood donors relatives had been tested for hemochromatosis.
In comparison, 53% of the relatives of patients diagnosed clinically had been tested, despite unstructured provision of genetic information.
The researchers found that a large number of untested relatives had undiagnosed iron overload.
Dr Anne McCune's team concluded, "Overall efficacy of population screening for hemochromatosis is undermined by these observations".