Epidemiological investigation of thalassemia in gestational age population of Dai nationality in Dehong Prefecture, Yunnan Province

Abstract

Objective To investigate the gene carrying rate,gene mutation type and hematological characteristics of thalassemia in Dai nationality population of Dehong Prefecture, Yunnan Province. Methods A total of 591 Dai nationality gestational age population in Dehong were tested for thalassemia gene by next-generation sequencing technology. The sensitivity and specificity of the hemoglobin electrophoresis and blood routine tests were performed. Results A total of 289 cases (48.90%) were positive for thalassemia gene. Among them,231 cases were classified as α-thalassemia(39.09%) and 89 cases were β-thalassemia(15.06%). Five α-thalassemia genotypes and seven β-thalassemia genotypes were detected. For α-thalassemia, --SEA showed comparatively lower values for MCV and MCH; αCSα showed comparatively lower values for Hb A2 (P＜0.05). For the β-thalassemia,CD 26 (G＞A)had significantly lower Hb A values,and higher MCH values(P＜0.05). A new cut-off value for the thalassemia with the highest accuracy was proposed(MCV 83.55 fL,MCH 27.95 pg). Conclusions Thalassemia is common in Dai nationality population of Dehong. The most frequently identified types are －α3.7 and CD 26 (G＞A).

Keywords

• thalassemia|dai nationality|gene mutation|hematological characteristics|epidemiological investigation