David H.K. Chui

TL;DR: A relational database of hemoglobin variants and thalassemia mutations, called HbVar, is constructed, which can be accessed on the web at http://globin.cse.psu.edu, and should be useful for clinical diagnosis as well as in fundamental studies ofhemoglobin biochemistry, globin gene regulation, and human sequence variation at these loci.

TL;DR: New efforts to induce high HbF levels in sickle cell disease beyond those achievable with the current limited repertory of Hbf inducers are spurred on.

TL;DR: The frequencies for a large number of mutations causing beta-thalassemia in at-risk populations have been extracted from the published literature and made available for the user to query upon in HbVar.

TL;DR: The hemoglobin molecule is a tetramer consisting of 2 pairs of globin chains, each of which contains a heme group, which is located on the α-globin gene cluster.

TL;DR: The discovery of the presence of fetal DMA in maternal plasma has provided a new approach for non-invasive prenatal diagnosis of p thalassaemia and this work designed allele-specific primers and a fluorescent probe for detection of the codon 41/42 mutation in the β globin gene from maternal plasma by real-time PCR.