Establishment and characterization of induced pluripotent stem cell line (IGIBi002-A) from a β-thalassemia patient with IVS1-5 mutation by non-integrating reprogramming approach.

β-thalassemia (BT) is a hereditary blood disorder caused by mutations in the β-globin (HBB) gene leading to severely reduced or no synthesis of the β-chain of adult hemoglobin. IVS1-5 (G > C) is the most common BT mutation in Indian population and yet no patient-specific cellular models have been generated. Here, we have established an induced pluripotent stem cell (iPSC) line, IGIBi002-A from a thalassemia patient with a homozygous IVS1-5(G > C) mutation.

Identification and Development of a High-Risk District Model in the Prevention of β-Thalassemia in Telangana State, India.

The burden of β-thalassemia (β-thal) is largely underestimated in India with a carrier frequency of 3.0-4.0% in general, whereas highly stratified frequencies of up to 17.