RT Journal Article
SR Electronic
T1 Searching for Hereditary Hemochromatosis
JF American Society for Clinical Laboratory Science
JO Clin Lab Sci
FD American Society of Chemistry and Laboratory Science
SP 174
OP 183
DO 10.29074/ascls.19.3.174
VO 19
IS 3
A1 Rebecca J Laudicina
YR 2006
UL http://hwmaint.clsjournal.ascls.org/content/19/3/174.abstract
AB OBJECTIVE: To detect hereditary hemochromatosis (HH) in low-income residents of a medically underserved region through free screening and confirmatory laboratory testing and to raise awareness of HH in the general population.DESIGN: Two-tiered reflexive laboratory testing was used to screen for HH. Participants evaluated the project by written survey upon its conclusion. Data were analyzed by descriptive techniques.SETTING: Local public health departments in 18 counties in western North Carolina (WNC).PARTICIPANTS/SUBJECTS: Phase 1: adult volunteers age ≥ 20 without previous diagnosis of HH; Phase 2: Phase 1 participants with elevated screening results and adult family members of Phase 2 participants found to have HFE mutations; Phase 3: randomly-selected Phase 1 participants (Survey A) and all Phase 2 participants with HFE mutations (Survey B).INTERVENTIONS: Phase 1 (initial screening): non-fasting blood collection by venipuncture with testing for transferrin saturation (TS). Phase 2 (confirmatory testing): fasting blood collection by venipuncture for TS, serum ferritin (SF), and cheek swab for DNA analysis for two HFE mutations (C282Y and H63D). Phase 3: written Surveys A and B.MAIN OUTCOME MEASURES: Total number participants screened for HH; prevalence of elevated TS in Phase 1 participants; prevalence of HFE genotypes consistent with HH (C282Y/C282Y and C282Y/H63D) in Phase 2 participants; prevalence of elevated SF in subjects with HFE mutations; number of family members tested; number of participants being treated for HH as a result of screening; increase in awareness of HH among Phase 1 participants.RESULTS: 2,034 total subjects participated in screening events and/or family member testing. Of the 1,976 Phase 1 participants, 130 (6.6%) had elevated TS (≥ 45%). Twenty of 130 (15.4%) Phase 2 subjects were homozygotes for C282Y. The prevalence of the C282Y/C282Y genotype among the Phase 1 participants who were tested in Phase 2 was 20/1976 (1.0%). Fourteen of 20 (70%) C282Y homozygotes had elevated SF. Eleven of 130 (8.5%) Phase 2 subjects were compound heterozygotes for C282Y and H63D, and none had elevated SF. Of 58 family members tested, two (3.4%) were homozygotes for C282Y and eight (13.8%) were compound heterozygotes for C282Y and H63D. One of two (50%) family members homozygous for C282Y had an elevated SF. No compound heterozygotes had elevated SF. Sixty-four of 120 (54.2%) Phase 1 subjects responded to Survey A. 53.1% of respondents were unaware of HH prior to the screening event. 92.1% of respondents told their family and friends about HH after participating. 73.4% discussed their laboratory results with their healthcare provider. Twenty of 41 participants (48.8%) found to have HFE mutations associated with HH responded to Survey B. Eleven of 20 (55.0%) stated that they were being treated for HH.CONCLUSION: The prevalence of the major genetic mutation, C282Y/C282Y, associated with HH among Phase 1 study participants in WNC was 1%, more than three times the national prevalence of approximately 0.33%. Results suggest that free screening using laboratory tests in a two-tiered reflexive approach may be an effective means of detecting HH, especially in high-risk populations. Early detection through free laboratory screening tests may reduce morbidity and, ultimately, healthcare costs for low-income individuals. Awareness of HH as a health concern may increase as a result of publicity generated by screening events.ABBREVIATIONS: HESP = Hemochromatosis Education and Screening Project; HH = hereditary hemochromatosis; PHD = public health department; SF = serum ferritin; SI = serum iron; TIBC = total iron binding capacity; TS = transferrin saturation; WNC = western North Carolina.