| Hereditary hemochromatosis has been classified as the most common autosomal recessive disorder in the United States. However, there exists no documentation of the frequency of screening and/or diagnosis in the military. Through a review of clinical records, it was found that very few military personnel and dependents receive iron-status screening. In addition, the actual number of clinical referrals and subsequent diagnoses at the Air Force medical genetics center is quite low. Overall, more males were genetically screened for hemochromatosis. However, females had a higher percentage of individuals homozygous for the C282Y mutation. More males were referred with abnormal iron status, while more females reported a family history of hemochromatosis. Patients at smaller medical treatment facilities and primary care providers more often included a family history of hemochromatosis in their referrals. Blood and serum were obtained from over 2,000 previously collected samples at a large military medical center. The importance of population specific reference ranges was demonstrated by age and sex differences in several of the biochemical parameters measured. The use of the transferrin saturation percentage was shown to be effective in identifying individuals homozygous for the C282Y mutation. The mean corpuscular volume, a calculated parameter of the complete blood count, was shown to be significantly higher in C282Y homozygotes and affected heterozygotes. Liver function tests were found to be too non-specific to use routinely in screening for hemochromatosis. However, affected females had a higher activity level of ALT and AST to reference value ratio when compared to males. Iron alone correlated reasonably well with transferrin saturation to be potentially useful as a stand-alone screening test. Few active duty males were found to have presumptive iron deficiency anemia. Anemia in general was fairly common among all females and older males. Presumptive iron deficiency anemia was found in many females. Implementation of a hemochromatosis-screening program will require additional education of clinicians in order to be effective. Such a program will identify many individuals with hemochromatosis and iron deficiency anemia. |
