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Screening for iron overload in the Turkish population
Gultekin Barut1, Huriye Balci, Mithat Bozdayi
1Department of Internal Medicine, Cerrahpasa Medical Faculty, University of Istanbul, Istanbul, Turkey.
Digestive Diseases (Basel, Switzerland)
|October 23, 2003
Summary
This study screened the Turkish population for hereditary hemochromatosis (HH), finding a much lower prevalence than in Celtic populations. The C282Y mutation, common in HH, was not found in Turkish individuals.
Area of Science:
- Genetics
- Internal Medicine
- Public Health
Background:
- Hereditary hemochromatosis (HH) is an autosomal recessive disorder causing iron overload.
- HFE gene mutations (C282Y, H63D) are primary causes of HH, particularly in individuals of Celtic descent.
- No prior screening studies for HH existed in the Turkish population.
Purpose of the Study:
- To screen the Turkish population for iron overload and assess the prevalence of HH.
- To investigate the presence of HFE mutations (C282Y and H63D) in the Turkish population.
Main Methods:
- Transferrin saturation (TS) was measured in 4,633 healthy adults.
- Subjects with TS ≥50% underwent repeat fasting TS measurements.
- Serum ferritin levels, HFE mutations (C282Y, H63D), and liver biopsies (if ferritin >200 ng/ml) were performed on selected individuals.
Main Results:
- Of 135 subjects with elevated fasting TS, 11 were H63D heterozygotes and 1 was an H63D homozygote.
- The C282Y mutation was absent in all subjects.
- One male H63D heterozygote with elevated ferritin showed liver iron overload via biopsy.
Conclusions:
- The prevalence of hereditary hemochromatosis is significantly lower in the Turkish population compared to populations of Celtic ancestry.
- The C282Y HFE mutation is not present in the Turkish population studied.
- The H63D mutation is present, but rare, and associated with iron overload in some individuals.