Gene diagnostication and screening with regard to thalassemia of society colony in Yunan Dehong region(4 caes of family attached)

Objective The purpose of this study is to investigate the incidence ratio and mutation type of thalassemia in the Yunan Dehong region.Methods At first,The samples are screened by means of red-cell exponent,micro-dosage hemoglobin electrophoresis, Hemoglobin A2 quantitation respectively.Then theβ-thalassemia mutation genotyping were identified through reverse dot-blotting hybridization technique.Theα-thalassemia gene deletion were diagnosed by GAP-PCR and gel electrophoresis,the positive samples ofβ-thalassemia were detected withα-thalassemia gene deletion screening.Finally,We collect the blood specimen and carry on the pedigree investigation in which we detecte the genotype in selected probands of the family members.Results Altogether 848 cases(28.10%)were the positive among 3018 samples who were detectedα,β-thalassemia.In 848 positive cases,554 cases are a-thalassemia,β-thalassemia(including HbE375 cases) were 385 cases,the positive rate is 12.76%.The incidence rate ofβ-thalassemia recombinationα-thalassemia was 22.60%.There are 44 positive cases of which 56 family members were detected in 4 proband investigation.Conclusion The thalassemia can be rapidly,simply and relagative accurately detected by using reverse dot-blotting hybridization membrane chip and GAP-PCR;Thalassemias was severe in Yunnan Dehong.