Gene diagnosis and clinical manifestation in 41 patients with thalassemia

Objective To study gene mutation type of thalassemia in Kunming city,Yunnan province,and analyze the relationship between gene mutation and clinical manifestation.Methods Polymerase chain reaction was used to detect gene mutation type of α-thalassemia,and reverse dot blot(RDB)was used to detect the β-thalassemia.Results Of all the patients,41 patients were diagnosed as thalassemia,including 9 gene mutation types and 17 gene combinations.Among 41 thalassemia patients,six patients were diagnosed as α-thalassemia,34 as β-thalassemia,and one case with α-and β-thalassemia combination.Conclusion Variable and complicated thalassemia was found in the city.The main α-thalassemia type is-SEA/αα,the site 17 point mutation was the most common gene mutation in β-thalassemia.The results are different from other literatures,reports,suggesting that the incidence of thalassemia has some characteristics in this province.Further research is needed.Clinical presentation varies due to different genotypes.In some cases with HbH,α-thalassemia with β-thalassemia combination,the homozygote and double heterozygote of β-thalassemia,clinically characterized by earlier onset and severe symptoms,β-thalassemia heterozygote and single deletion form of α-thalassemia had mild anemic symptom,later onset and fewer blood transfusion.