"Silent" β-thalassemia mutation (promoter nt-101 C > T) with increased hemoglobin A

One of the most common silent β-thalassemia mutations is the C > T substitution at position -101 within the distal CACCC box, which leads to a mild reduction in the expression level of the β-globin gene. Carriers of this mutation have a normal hematologic picture without microcytosis and b...

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Bibliographic Details
Main Author: Deniz Aslan
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 2016-06-01
Series:The Turkish Journal of Pediatrics
Subjects:
Online Access:https://turkjpediatr.org/article/view/1116
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