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Screening for hemochromatosis in Turkey
Hakan Bozkaya1, Mehmet Bektas, Olga Metin
1Department of Gastroenterology, Ankara University Medical School, Ankara, Turkey. bozkaya@medicine.ankara.edu.tr
Digestive Diseases and Sciences
|May 14, 2004
Summary
Hereditary hemochromatosis is rare in Turkey, with few individuals showing HFE gene mutations. This study investigated iron-binding capacity and HFE mutations in Turkish blood donors, revealing low prevalence.
Area of Science:
- Hematology
- Genetics
- Gastroenterology
Background:
- Hereditary hemochromatosis (HH) is an iron overload disorder.
- The HFE gene is commonly associated with HH.
- Prevalence and genetic basis of HH in Turkey remain understudied.
Purpose of the Study:
- To screen blood donors for low unbound iron-binding capacity (UIBC).
- To investigate the prevalence of HFE mutations in subjects with low UIBC.
- To determine the frequency of HH phenotypic expression in Turkey.
Main Methods:
- Screening of 3060 blood donors for UIBC <28 microM.
- HFE mutation analysis (H63D, C282Y) in subjects with low UIBC.
- Liver biopsy indication assessment and liver iron quantification.
Main Results:
- Only 5 out of 75 subjects (8%) with initially low UIBC had persistently low fasting UIBC.
- HFE H63D heterozygosity found in 2/5 subjects with low fasting UIBC.
- HFE H63D heterozygosity found in 7/60 subjects (11.6%) with normal fasting UIBC.
- No common HFE mutations (H63D, C282Y) detected in 3 HH patients.
Conclusions:
- Full phenotypic expression of hereditary hemochromatosis is rare in Turkey.
- The common HFE mutations are infrequently associated with HH in the Turkish population.
- HH in Turkey may involve different genetic factors or mutations.