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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
Tükün, Fatma Ajlan
Akar, Nejat
Keywords: Hemochromatosis
HFE gene mutation
Alpha globulin deletion
Issue Date: 1-Oct-2018
Publisher: Egyptian Society of Human Genetics
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: 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 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.
ISSN: 11108630
Appears in Collections:Dahili Tıp Bilimleri Bölümü / Department of Internal Medical Sciences
Temel Tıp Bilimleri Bölümü / Department of Basic Medical Sciences

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