New mutant gene discovery to help find cure for Thalassemia

Chinese doctors have discovered a new mutant gene for alpha-thalassemia, first of its kind, an advance that enriches the gene database to assist researches into cures for the genetic disease.
Li Youqiong and colleagues from the People's Hospital of Guangxi Zhuang Autonomous Region, discovered the gene -- a 21.9 -- after a series of experiments on a carrier of the hereditary disease in 2011, state-run Xinhua news agency reported today.
Thalassemia is a disease where the carrier is missing or has malfunctioning genes responsible for making hemoglobin, the blood protein that helps to carry oxygen around the body.
The hemoglobin molecule has subunits commonly referred to as alpha and beta.

The mutant gene was identified by the end of 2012 before it was added to the GenBank database in the US-based National Center for Biotechnology Information (NCBI) and made public on October 1, 2013, according to Li.
There is no effective cure for alpha-thalassemia, and the discovery of the new mutation will help prevention and research into the disease while preparing theoretical basis for future gene therapy.
There are three main genetic sequence databases worldwide, which comprises the DNA Data bank of Japan(DBJ), the European Molecular Biology Laboratory(EMBL) and GenBank at NCBI.