Molecular Basis and Hematologic Phenotype of Hemoglobin H Disease Combined with Two Rare β-Globin Mutations.

In area where α-thalassemia and β-thalassemia are prevalent, the coinheritance of hemoglobin H disease (Hb H disease) and β-thalassemia are not uncommon and could result in complex thalassemia intermedia syndromes. In this study, we investigate the hematological and molecular characteristics of two previously undescribed cases that co-inherited Hb H disease and rare β-globin gene () mutations found in Chinese populations. Proband I was a boy with Hb H disease in association with IVS-II-5(G > C) (:c0.

Triaging of DNA-Encoded Library Selection Results by High-Throughput Resynthesis of DNA-Conjugate and Affinity Selection Mass Spectrometry.

DNA encoded library (DEL) technology allows for rapid identification of novel small-molecule ligands and thus enables early-stage drug discovery. DEL technology is well-established, numerous cases of discovered hit molecules have been published, and the technology is widely employed throughout the pharmaceutical industry. Nonetheless, DEL selection results can be difficult to interpret, as library member enrichment may derive from not only desired products, but also DNA-conjugated byproducts and starting materials.