| Description |
The project aims to conduct in-depth systematic research on two common hereditary blood diseases that pose serious health risks to human beings, namely, thalassemia and hereditary hemochromatosis. There are about 345 million thalassemia gene carriers in the world, and the disease is widely prevalent in the southern provinces of China, including Guangdong and Guangxi, where the thalassemia gene carrier rate is as high as about 12 per cent and 24 per cent, respectively. Thalassemia patients present with severe anemia and systemic iron overload, and rely on high blood transfusions and iron-expelling agents for long-term survival. Inherited hemochromatosis and iron overload are hereditary blood disorders in which mutations in genes that regulate iron metabolism lead to severe iron overload; the prevalence of iron metabolism abnormalities in the population is 1.98%, with the prevalence of hereditary hemochromatosis patients in the population being 0.5%. The common feature of thalassemia and hereditary hemochromatosis is severe iron overload, either primary or secondary, which leads to growth and developmental disorders, hepatosplenomegaly, cirrhosis, diabetes mellitus, and cardiac failure, and is a key cause of disability and death. These two types of hereditary blood diseases are highly prevalent genetic diseases plaguing China's national economy and people's livelihood, characterized by large incidence groups, high rates of disability and death, high preventability, and serious economic burden. The discovery and identification of novel protein machines and markers for these two types of hereditary blood diseases, and the precise prevention and diagnosis of these diseases have become a major issue concerning the country's wealth and strength, as well as the harmony of the society, which urgently needs to be tackled and cracked. |
