Objective To investigate the incidence of-thalassemia and the gene variations of beta-globin in Guizhou Congjiang Dong people.
Methods To sample from venous blood and determine the HbF and HbA2 by the AM-electrophoresis to riddle the heterogotes of β-thalassemia, then the blood of heterogotes were analyzed by the auto matic blood cell analyzer, DNA extracted from white blood cells with the rountine method and analysed by PCR. and RDB (reverse dot blot) hybridization.
Results Among the sampls, the incidence of-thalassemia carriers is 7.85%, The types of gene mutation in this area were CD41-42 (-TCTT) (9 cases, 23%) and CD17(A→T) (30 cases.77%).
Conclusion The incidence of-thalassemia was very high in the area and the beta-globin gene variations were different to that of the reported Chinese population, which might be related to the intra-ethnic marriage, the conglomerate family mobility and the narrow marriage radius.