ABSTRACT
Objective To assess of iron overload in thalassaemia minor patients and provide basis for clinical intervention.Methods A total of 458 thalassaemia minor patients confirmed by genetic tests were divided into two groups(α-thalassaemia group and β-thalassaemia group),and 120 healthy individuals were recruited into control group.Serum iron and serum ferritin were measured,correlations between serum ferritin and age,genotypes,hemoglobin were evaluated.Results There was no significant difference in serum iron among the three groups(P>0.05),but the differences of serum ferritin was statistically significant(P<0.05),and serum ferritin in the β-thalassemia group was higher than that of the α-thalassemia group(P<0.05).Serum ferritin also had significant differences between different age groups(P<0.05),and which was higher in young patients(≤20) and older patients.Besides that,in patients older than 20 years,the level of ferritin was positively correlated with age.Moreover,we found serum ferritin had statistically differences between genotypes in α-thalassaemia patients(P=0.006),and which had poor negatively correlation with hemoglobin in β-thalassaemia patients(r=-0.252,P=0.001).Conclusion Serum ferritin was a sensitive indicator to assess iron overload in thalassaemia minor patients,and which was positively correlated with age in thalassaemia patients 20 or more than 20 years old.Our research also indicates different iron overload traits between α-thalassaemia patients and β-thalassaemia patients.
ABSTRACT
Objective To understand the gene carrying rate ,gene mutation types and distribution characteristics of thalassemia in the northeast area of Chongqing .Methods 28 633 specimens collected from the patients and individuals with physical examina‐tion in our hospital from January to December 2013 were performed the RBC parameters detection and hemoglobin electrophoresis screening .The specimens with phenotype positive were definitely verified the thalassemia type by using Gap‐PCR and reverse dot blot(RDB) .Results Among 28 633 specimens ,1 358 specimens were finally diagnosed as thalassemia with the thalassemia carrying rate of 4 .74% ,including 589 cases(2 .06% ) of α‐thalassemia and 741 cases (2 .59% ) of β‐thalassemia cases .Among the α‐thalasse‐mia genotypes ,‐αα/‐‐SEA genotype(1 .38% ) was most common ,the next was ‐αα/‐α3 .7 genotype (0 .37% ) and αα/‐α4 .2 genotype (0 .20% ) .Among the β‐thalassemia genotypes ,CD41‐42 genotype (1 .27% ) had the highest constituent ratio ,followed by IVS‐2‐654 genotype(1 .27% ) and CD17 genotype(0 .30% ) .28 cases were found to be the double heterozygote with α‐thalassemia and β‐thalassemia .Conclusion The northeast area of Chongqing is a region with the high incidence rate of thalassemia and complicated heredity .Therefore this research provides the reference information for the prevention of thalassemia ,genetic counseling and prena‐tal diagnosis .