| Objective:In order to provide suggestions for the diagnosis treatment,genetic counseling and so on of β-thalassemia patients,this paper analyzes the age,geographic region,gene mutation types and clinical manifestations,blood test results,and iron overload conditions ofβ-thalassemia patients,compares the differences in clinical manifestations and hematological indicators between different age groups,and finally analyzes the factors related to iron overload.Methods: :(1)This study collected ethnicity,gender,age,geographic region,gene mutation types and geographical distribution,clinical manifestations,hematological findings and iron overload,including routine blood,hemoglobin electrophoresis,liver function,thyroid function,serum ferritin(SF)in a total of 268 patients with β-thalassemia who attended the Affiliated Hospital of Youjiang National Medical College from January 1,2016 to December 31,2020.The data included 268 blood routine tests,266 hemoglobin electrophoresis,268 liver function,180 thyroid function,and 258 SF results.(2)The observed indexes included genotype,hemoglobin electrophoresis,hemoglobin(Hb),erythrocyte mean corpuscular volume(MCV),mean corpuscular hemoglobin(MCH),mean corpuscular hemoglobin concentration(MCHC),aspartate aminotransferase(AST),alanine aminotransferase(ALT),free thyroxine(FT4),thyroid-stimulating hormone(TSH),enlarged liver and spleen,enlarged heart.(3)Patients were divided into two groups according to age,and differences in clinical manifestations such as Hb,MCV,MCH,MCHC,SF,liver function and thyroid function between different age groups were compared and analyzed.(4)The influence of age and hematological parameters on SF was summarized by the analysis of the relevant data by using SPSS 25.0.Results:(1)A total of 11 gene mutation sites were detected in 268 patients withβ-thalassemia,mainly CD17(37.50%),CD41-42(34.60%),βE(11.20%),IVSI-1(4.40%),CD28(3.80%),654(3.50%),CD71-72(2.90%),CD43(0.90%),CD29(0.60%),Int(0.30%),CD18(0.30%),which formed into 30 groups of genotypes.In these cases,the mainly ethnic groups were Zhuang,Han,Yao,Buyi and Dong.(2)Patients aged less than or equal to 18 years old constituted group A,whose Hb range was 14.00-109.00g/L,MCV range was50.30-98.70 f L,MCH range was 15.30-31.00 pg and MCHC range was 232.00-435.00g/L;Patients aged above 18 composed group B,whose Hb range was 28.00-139.00g/L,MCV range was 16.70-102.20 f L,MCH range was 13.90-65.20 pg and MCHC range was239.00-471.00g/L respectively.In general,the Hb of group A was smaller than that of group B,and the difference was statistically significant(P<0.05);the MCV,MCH,and MCHC levels of group A were higher than group B,and the difference was statistically significant(P<0.05).(3)258 in 268 patients had clear SF test results,and 79 patients had iron overload(30.60%).The level of SF in group A was higher than group B,and the difference was not statistically significant(P>0.05).(4)Among the 268 patients,58(21.60%)had enlarged liver,92(34.30%)had enlarged spleen,61(27.70%)had enlarged heart,and 4 had decreased ejection fraction(1.80%).Among 268 patients,96(35.82%)patients had liver damage.Of the 268 cases,180 cases were tested for thyroid function,including 8(4.40%)cases of hypothyroidism and 26(14.40%)cases of subclinical hypothyroidism,and there was 34(18.89%)cases with thyroid dysfunction.(5)The iron load in the patient increased with age.Conclusion:1.CD17 is the predominant gene mutation locus in β-thalassemia,and CD17/N is the most common genotype.In addition,the proportion of male and female is basically equal.2.The iron overload symptoms in patients with β-thalassemia exaggerated with age,and the iron removal treatment was not standardized yet,there are many complications,so early and standardized iron removal therapy is needed. |
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