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dc.contributor.authorÇelik, Vesile Deniz
dc.contributor.authorKılıç, Betül Orhan
dc.contributor.authorAkışın, Yasemin Ardıçoğlu
dc.contributor.authorTükün, Fatma Ajlan
dc.contributor.authorAkar, Nejat
dc.identifier.citationÇelik, V. D., Kiliç, B. O., Akişin, Y. A., Tükün, F. A., & Akar, N. (2018). Asymptomatic hemochromatosis case with HFE c. 1007− 47G> A, c. 340+ 4T> C heterozygous mutations and alpha globin− 3.7 kb deletion. Egyptian Journal of Medical Human Genetics, 19(4), 433-435.en_US
dc.description.abstractHereditary 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 after c.1007−47G>A heterozygous c.340+4 T>C heterozygous mutations were detected in HFE gene analysis after a suspicion of hemochromatosis due to increase of hemoglobin value from 14.8 g/dL to 16.8 g/dL and the level of ferritin from 68 ng/ml to 300 ng/ml in routine check-up controls in two-years period. In addition, due to low mean corpuscular volume (MCV) (76 fL), and mean corpuscular hemoglobin (MCH) (26 pg) levels, gene mutation analysis was carried out and the patient was also shown to carry α thalassemia −3.7 deletions. Conclusion: Early diagnosis of hemochromatosis is important in terms of prognosis and morbidity. We aimed to emphasize that we can easily diagnose the disease by performing genetic analysis in cases with suspected hemochromatosis even they have no complaints.en_US
dc.publisherEgyptian Society of Human Geneticsen_US
dc.subjectHFE gene mutationen_US
dc.subjectAlpha globulin deletionen_US
dc.titleAsymptomatic hemochromatosis case with HFE c.1007−47G>A, c.340+4T>C heterozygous mutations and alpha globin −3.7 kb deletionen_US
dc.relation.journalEgyptian Journal of Medical Human Geneticsen_US
dc.contributor.departmentTOBB ETU, Faculty of Medicine, Department of Basic Medical Sciencesen_US
dc.contributor.departmentTOBB ETÜ, Tıp Fakültesi, Temel Tıp Bilimleri Bölümütr_TR
dc.contributor.tobbetuauthorAkar, Nejat
dc.contributor.tobbetuauthorAkışın, Yasemin Ardıçoğlu
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı

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