Asymptomatic hemochromatosis case with HFE c.1007−47G>A, c.340+4T>C heterozygous mutations and alpha globin −3.7 kb deletion

ConclusionEarly 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.

Source: Egyptian Journal of Medical Human Genetics - September 16, 2018 Category: Genetics & Stem Cells Source Type: research