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Egyptian Journal of Medical Human Genetics

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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

Vesile Deniz Çelik, Betul Orhan Kiliç, Yasemin Ardıçoğlu Akışin, Fatma Ajlan Tükün, Nejat Akar

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 a 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.

Keywords: Hemochromatosis, HFE gene mutation, Alpha globulin deletion




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