Genetic Diagnosis Of The Unknown Abnormal Gene Of Thalassemias

Thalassemia is a group of genetic and hemolytic disease induced by disfunction ofglobin synthesis, which results from globin protein chain peptide synthesis partial orcomplete inhibition.α-thalassemia, β-thalassemia are the most common hereditary diseasewhich happened mostly in south of China, the mortality of thalassemia is high and nogood therapy can cure it. The best way to treat thalassemia is diagnosis of the mutantgene,and which is significant to prenatal diagnosis. At present, only common knownmutations and deletion mutations can be detected in clinical, and the point mutationwould be miss. Sequencing The golden standard of point mutation is sequencing which iscosting and troubled. Most researches are sequencing the doubted mutation gene whichwas detected by gene screening. A number of studies recommend the HRM which can begood used to screen the point mutation now. The RT-PCR method was used to detect thedeletion mutation.