Gene diagnosis and clinic characterization of childrenαβ-thalassemia

Objective:To investigate the prevalence, genotype and clinic characterization of childrenαβ-thalassemia in Guangdong province. Methods:The DNA samples of 286β-thalassemias diagnosed by reverse dot blot (RDB ) were analyzed by Gap-PCR for α-thalassemia 1 gene and α-thalassemia 2 gene.Results:Of 286 β-thalassemias, 25 were detected to be combined with α-thalassemia, among which 14 were detected to be combined withα-thalassemia 1 gene and 10 were detected to be combined with α-thalassemia 2 gene. 18 cases of β-thalassemia minor were detected to be combined with α-thalassemia, 7 cases of β-thalassemia major were detected to be combined with α-thalassemia. The prevalences were 8.74%, 4.89%, 3.85%, 8.74% and 8.75%, respetively. β-thalassemia major accounted for 28.0 % in 25 cases of childrenαβ-thalassemia. The children of β-thalassemia minor combined withα-thalassemia had no remarkable clinic characterization. The chidren of β-thalassemia major combined with α-thalassemia had obvious clinic characterization such as anaemia and splenohepatomegalia and were detected to be β-thalassemia intermedius type. Conclusion: The prevalence of αβ-thalassemia in Guangdong province is relatively frequent. The genotypes of αβ-thalassemia are associated with the phenotypes. It is very important to investigate the genotype of αβ-thalassemia for guiding the nursing, health care, therapy, marriage and procreation of thalassemia children.