OBJECTIVEThe new technology of genechip is exerting a significant impact on the identification of thalassemia, and allows to rapidly and efficiently detect a number of molecular disorders. The aim of the present study was to explore the application value of the diagnostic genechip in determining thalassemia.

METHODSThe subjects group consisted of 62 children with alpha thalassemia and 93 children with beta thalassemia (60 with thalassemia trait, 33 with thalassemia major) from Guangdong province were tested from July 2002 to July 2003; 115 were males and 40 were females, the age ranged from 1 day to 11 years. These children had mild, moderate or severe anemia. Laboratory examinations showed microcytosis and hypochromocytosis. DNA was extracted from ACD coagulated blood with Invisorb DNA extraction kit. After preparation, the alpha and beta globin gene organization and structure of sample was analyzed by genechip technology.

RESULTS(1) Heterozygotes, homozygotes and compound heterozygotes of the three commonest deletional alpha thalassemia (--(SEA), -alpha(3.7), -alpha(4.2)) and two non-deletional alpha thalassemia (HbCS, HbQS) were successfully detected. (2) Eight different mutations were identified in 126 chromosomes among 60 cases with beta thalassemia traits and 33 cases with beta thalassemia major, namely CD41-42, IVS-II-654, TATAbox-28, CD17, CD71-72 (+A), betaE(26) CD27-28 (+C) and CD71-72 (+T), with the frequencies of 33.5%, 23.9%, 15.0%, 15.0%, 4.8%, 2.4%, 2.4% and 1.5% respectively. (3) Eight cases (13.3%) in 60 thalassemia traits, two cases (6%) 33 cases with thalassemia major were detected to be combined with alpha thalassemia mutation.

CONCLUSION(1) The usage of genechip in identifying thalassemia mutations has the advantages of simplicity, economy and shorter time. This technique does not use radioisotope and could also detect alpha and beta thalassemia mutations simultaneously. (2) The occurrence of alpha and beta thalassemia dual heterozygotes is frequent in Guangdong province and the genechip technology is important in genetic counseling and prenatal diagnosis of thalassemia in this area.