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Title: Asymptomatic hemochromatosis case with HFE c.1007−47G>A, c.340+4T>C heterozygous mutations and alpha globin −3.7 kb deletion
Authors: Çelik, Vesile Deniz
Kılıç, Betül Orhan
Ardıçoğlu Akışın, Nazife Yasemin
Akar, Nejat
Keywords: Hemochromatosis
HFE gene mutation
Alpha globulin deletion
Issue Date: 2019
Source: Çelik, 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.
Abstract: Background 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.
ISSN: 110-8630
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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