Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.11851/3219
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dc.contributor.authorÇelik, Vesile Deniz-
dc.contributor.authorKılıç, Betül Orhan-
dc.contributor.authorArdıçoğlu Akışın, Nazife Yasemin-
dc.contributor.authorAkar, Nejat-
dc.date.accessioned2019-12-30T07:24:31Z-
dc.date.available2019-12-30T07:24:31Z-
dc.date.issued2019-
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.identifier.issn110-8630-
dc.identifier.urihttps://www.sciencedirect.com/science/article/pii/S1110863018300685-
dc.identifier.urihttps://hdl.handle.net/20.500.11851/3219-
dc.identifier.urihttps://doi.org/10.1016/j.ejmhg.2018.06.001en_US
dc.description.abstractBackground 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 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 ? 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.language.isoenen_US
dc.relation.ispartofEgyptian Journal of Medical Human Geneticsen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectHemochromatosisen_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.typeArticleen_US
dc.departmentFaculties, School of Medicine, Department of Internal Medical Sciencesen_US
dc.departmentFakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümütr_TR
dc.identifier.volume19-
dc.identifier.issue4-
dc.identifier.startpage433-
dc.identifier.endpage435-
dc.identifier.scopus2-s2.0-85053318522en_US
dc.institutionauthorÇelik, Vesile Deniz-
dc.institutionauthorKılıç, Betül Orhan-
dc.institutionauthorAkışın,Yasemin Ardıçoğlu-
dc.institutionauthorAkar, Nejat-
dc.identifier.doi10.1016/j.ejmhg.2018.06.001-
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.identifier.scopusqualityQ4-
item.openairetypeArticle-
item.languageiso639-1en-
item.grantfulltextopen-
item.fulltextWith Fulltext-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
crisitem.author.dept03.14. Department of Internal Medicine-
Appears in Collections:Dahili Tıp Bilimleri Bölümü / Department of Internal Medical Sciences
Malzeme Bilimi ve Nanoteknoloji Mühendisliği Bölümü / Department of Material Science & Nanotechnology Engineering
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
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