SUPT5H mutations associated with elevation of Hb A2 level: Identification of two novel variants and literature review.

Abstract excerpt

β-thalassemia is one of the most common monogenic disorders in areas of the tropics and subtropics, which represents a major familial and social burden to local people. The elevated Hb A2 level, generally specified as greater than 3.5 %, is commonly used as a high efficiency index for screening of β-thalassemia carriers. However, mutations in other genes such as GATA1 and KLF1, could also result in increased Hb...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to beta-Thalassemia
• Share to Genotype