Thongperm Munkongdee

TL;DR: It is revealed that all the three reported loci and the α-globin gene locus are the best and common predictors of the disease severity in β-thalassemia.

TL;DR: The phenotypic diversity of 950 β‐thalassemia/Hb E patients was examined in an attempt to construct a system for classifying disease severity, which was able to separate patients into three distinctive severity categories: mild, moderate, and severe courses.

TL;DR: The slightly increased levels of Hb A(2), 3.5% +/- 0.4%, confirm that Hb E is the silent phenotype of beta(+)-thalassemia, and the automatic capillary zone electrophoresis system can separate and quantitate Hbs A, F, E, A( 2), Constant Spring (CS), H, and Bart's in a way that is comparable with other Hb analysis methods.

TL;DR: Screening for both α- and β-thalassemia genes by next-generation sequencing (NGS) has been introduced and this technique gives an accurate diagnosis of thalassemia that may be misdiagnosed by other conventional techniques.

TL;DR: This finding demonstrates that the genetic combination leading to the more/less degree of α- to non-α-globin chains imbalance is indeed the cause of the severe/mild thalassemia phenotype.