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In 2003, the Hemochromatosis and Iron Overload Study (HEIRS) was initiated with the aim of investigating, through widespread screening, the prevalence of hereditary hemochromatosis among different ethnic groups, the genetic and environmental determinants for actually developing hereditary hemochromatosis, as well as the clinical and personal impact on patients with hereditary hemochromatosis. The study is to continue for 5 years and involves approximately 100,000 patients in primary care centers. Each individual is screened for the presence of the HFE genetic mutations (C282Y and/or H63D) and serum transferrin saturation and serum ferritin levels are measured. Participants who test positive for the HFE genetic mutation are recalled for further testing in the study protocol.

While the investigation is scheduled to continue for another few years, some of the observations to date include:

• Among participants who were found to be homozygous for the HFE mutations but had not yet been diagnosed with iron overload, serum ferritin levels were elevated in 88% of the men and in 57% of the women.

• In a group of 364 participants who were homozygous for the HFE mutation but showed no clinical signs of disease, serum ferritin levels were above 1,000 ng/mL.

• Some ethnic groups (specifically Pacific Islanders and Asians) had a high incidence of elevated serum ferritin and serum transferrin saturation levels while having the lowest incidence of homozygosity for the mutations among the participants. This finding suggests that the HFE genetic mutation does not account for the high levels of serum ferritin and serum transferrin saturation in these particular ethnic groups.

• Ninety-three percent of participants who agreed to be screened felt that genetic risk information should be shared with family members

• Viral hepatitis and other liver diseases may be revealed in the course of screening for iron overload with serum ferritin and transferrin saturation tests.

You can read more about the various parameters being investigated in the ongoing research of the HEIRS group by clicking on any of the following links:

http://www.medifocus.com/abstracts.php?gid=GS020&ID=16545004

http://www.medifocus.com/abstracts.php?gid=GS020&ID=16797244

http://www.medifocus.com/abstracts.php?gid=GS020&ID=15833784

http://www.medifocus.com/abstracts.php?gid=GS020&ID=15858186

http://www.medifocus.com/abstracts.php?gid=GS020&ID=16225403

http://www.medifocus.com/abstracts.php?gid=GS020&ID=12589228

Other areas of hereditary hemochromatosis under investigation include:

• Researchers are comparing the serum transferrin saturation test to measuring the unsaturated iron-bonding capacity (UIBC) as screening tests for detecting hemochromatosis in C282Y homozygotes. The UIBC test is a one-step process and is less expensive than the traditional serum transferrin saturation test. Initial results of the UIBC screening test for hemochromatosis appear promising. To read more about this study, please click on the following link: http://www.medifocus.com/abstracts.php?gid=GS020&ID=15833784

• Active investigation continues to better understand various aspects of iron absorption and the mechanism involved in each step of the process in order to improve diagnosis and treatment of iron overload. To read about some of the areas being studied, please click on the following link: http://www.medifocus.com/abstracts.php?gid=GS020&ID=16627556