Epidemiological survey of α-thalassemia in population of Shunde area in Guangdong Province.

Objective To investigate the carrying rate of α -thalassemia's gene, gene mutation types and frequency distribution in Shunde District. Methods There umbilical cord blood from 1 000 newborns were colected for molecular epidemiological survey.Following the criteria for diagnosis of α -thalassemia, the samples positive for Hb Bart should be detected common gene deletion (--SEA/,--3.7/and--4.2/)first, then six non-deletion α-thalassemia mutation points (αCD30, △ GAT; αCD31, G-A; αCD59, G-A; αWS, C-G; αQS, C-G; αCS, C-G) negaative for Hb Bart were detected by membrane reverse hybridization technique. The two static-α-thalassemia genes (--3.7and/--4.2/) in samples negative for Hb Bart were detected. Results The The positive rate of Hb Bart was 5.4%(54/1000). After genetic analysis the α-thalassemia gene carrying rate in shunde was 8.9%(89/1000). The main genotypes were-SEA/αα and-α3.7/αα, accounted for 89.89%. Conclusions The α-thalassemia gene carrying rate and the types of gene mutation in Sunde was similar with that in other parts of Guangdong Province.