Genetic characteristics of 313 patients with thalassemia gene in Ningbo area of Zhejiang Province

Abstract

Objective To investigate the genetic characteristics of patients with thalassemia gene in Ningbo City. Methods Totally 313 patients with thalassemia gene diagnosed during March 2015 to April 2016 in Ningbo First Hospital were included in the study. The results of routine blood test, hemoglobin electrophoresis and gene test, as well as the gender and origin distribution of patients with thalassemia gene were analyzed. Results Of the 313 patients who carried the thalassemia gene, there were 289 females and 24 males with a median age of 29 years, ranging from 1 d to 57 years after birth. And of the 313 patients, 75 carried the α-thalassemia gene, 230 β-thalassemia and 8 composite thalassemia. The average value of hemoglobin was around 100 g/L and the average value of erythrocyte mean corpuscular volume (MCV) was less than 80 fl. Abnormal hemoglobin was usually found in α-thalassemia. 81.74% (188/230) of β-thalassemia had abnormal hemoglobin electrophoresis. Most of the patients were women who were diagnosed of anemia in routine prenatal examination. The number of patients, who came from Ningbo City or one of whose grandparents came from Ningbo City, was closed to 50%. Among 20 α-thalassemia patients coming from Ningbo City, genotype of--sea was the commonest genotype, accounted for 70.00% (14/20). Among 82 β-thalassemia patients coming from Ningbo, genotype of IVS-Ⅱ-654 was commonest genotype, accounted for 54.88% (45/82). Genotypes of 2 composite thalassemia coming from Ningbo City were αCS compound IVS-Ⅱ-654 and -α3.7 compound CD41-42. Conclusions In Ningbo City, the incidence of thalassemia in women in Ningbo is higher than that in men. The morbidity of β-thalassemia genotype is apparently higher than that of α-thalassemia, and genotype of IVS-Ⅱ-654 in β-thalassemia patients is the commonest genotype. Key words: Thalassemia; Hemoglobin; Genetic analysis