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Description

rs58542926 variant in TM6SF2 is a point mutation, wherein the Guanine nucleotide gets converted into adenine nucleotide in exon 6 (GA)

Iron supplementation should be initiated as soon as possible, because the cardiomyopathy may be driven solely by iron deficiency A complete iron evaluation should include: Ferritin Serum iron TIBC Transferrin saturation CBC Reticulocyte count when needed C-reactive protein, because inflammation can alter ferritin interpretation In gluten-sensitive patients, iron deficiency is a common problem

Interestingly, reduction or lack of some GSTs has been associated to infertility in men

Impact of Mutational Testing on the Diagnosis and Management of Patients with Cytologically Indeterminate Thyroid Nodules: A Prospective Analysis of 1056 FNA Samples