Presentation of A Case with C282Y Mutation Detected in HFE Gene and Research of HFE Gene Mutation Frequency in Patient's Family

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Introduction: In this study we present a 55-year-old male patient (index case) who came to Dicle University and detected to have a homozygous C282Y mutation. His family and close relatives were also evaluated for the same reason as it is a rare mutation. Patient and Method: We have evaluated ALT, AST, Fe, TIBC, ferritin, %TS parameters of the patient, his family, and the close relatives. Hemochromatosis mutations in HFE gene detected with Real-Time-PCR. Result: 34 relatives of the patient were evaluated upon detection of homozygous C282Y mu- tation in index case. Ferritin level was 7134 ng/mL in index patient. Hepatomegaly and excess iron in liver was detected. It was learned that patient was discharged from internal disea- ses department by phlebotomy recommendation. In 17 relatives of the patient heterozygous C282Y mutation, in four of them heterozygous H63D mutation was detected. In two cases homozygouse C282Y mutation was detected. Conclusion: HFE gene mutation survey causing hereditary hemochromatosis is very rare in Turkey. For the first time, HFE gene mutations were encountered in a family living in Black Sea region and rare C282Y mutation was detected. In this study a second extended family focus with frequent HFE gene mutation was discovered in a village with high frequency of endogamy in Diyarbakir region. Necessary attempts were made especially for close surve- illance of the two patients carrying C282Y homozygous gene mutation. We concluded that biochemical and genetic surveys and genetic consulting are important for public health.