[Analysis of Irregular Antibody Production in Severe β-Thalassemia Children with long-term Blood Transtusion and Its Correlation with RH Gene and Anemia Gene Mutation Site].

Objective: To analyze the prevalence of irregular antibodies in children with severe β-thalassemia after long-term blood transfusion and its correlation with RH and anemia gene mutations site.

Methods: One hundred twenty children with severe β-thalassemia and long-term blood transfusion were selected in our hospital, the genomic DNA was extracted and the genotype of RH factor were determined by PCR-SSP. The irregular antibodies and their types were screened and identified by the serological method, the gene types of the severe β-thalassemia were analyzed by reverse dot blot hybridization on DNA chip and PCR amplification.

Results: The major of RH genotypes in 120 children were Ce/Ce (59.17%) and CE/ce (25%), among them 10 children possessed the positive irregular antibodies (8.33%), out of these 10 children, the genotypes of RH factor were Ce/Ce in 6 cases, cE/cE, CE/ce, cE/ce and Ce/ce in one case; among these 10 children with positive irregular antibodies, the anemia gene mutations were IVs-11654M in 2 cases, cD4142M in 6 cases, 28M in 1 case, and CD71-72M in 1 case.

Conclusion: Irregular antibodies produced by regular blood transfusion in children with severe β-thalassemia may be related with RH factor and anemia gene mutation sites.