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Asymptomatic hemochromatosis case with HFE c.1007−47G>A, c.340+4T>C heterozygous mutations and alpha globin −3.7 kb deletion

Çelik, Vesile Deniz; Kılıç, Betül Orhan; Akışın, Yasemin Ardıçoğlu; Tükün, Fatma Ajlan; Akar, Nejat (Egyptian Society of Human Genetics, 2018-10-01)

Hereditary hemochromatosis is a disease associated with iron deposition which is caused by the mutations in “hereditary Fe (iron)” (HFE) gene. Case: The 16-year-old male patient was diagnosed with hereditary hemochromatosis ...