闽东地区畲族小儿β-地中海贫血15例临床分析及干预措施探讨  

Clinical analysis and inquire into interfere measure of 15 cases She nationality children with β-thalassemia in the east of Fujian Province.

作　　者：黄潕[1] 谢芳[2] 李朝晖[3] 郑屏生[1] 沈清玉[1] 

机构地区：[1]福建省宁德市闽东医院福建医科大学闽东医院教学医院儿科,福建省福安市355000 [2]福建省宁德市闽东医院福建医科大学闽东医院教学医院妇产科,福建省福安市355000 [3]福建省宁德市闽东医院福建医科大学闽东医院教学医院检验科,福建省福安市355000

出　　处：《中国优生与遗传杂志》2007年第11期114-116,54,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的通过对闽东地区13年来15例畲族小儿β-地中海贫血病例的回顾性分析,小结β-地中海贫血的各种治疗方法,并提出干预措施。方法用回顾性分析方法对闽东地区13年来15例畲族小儿β-地中海贫血病例进行临床分析。结果闽东汉族人口300万,畲族人口20万,畲汉人口比例为1：15,闽东汉族小儿β-地中海贫血住院率为0.0046‰,畲族为0.05‰,畲汉之比为12.1：1,按人口比例畲族小儿住院率远高于汉族,u=3.98,P〈0.01,有高度显著性差异。畲族小儿β-地中海贫血患者占同期总住院病人数的0.05%,占同期溶血性贫血病人的6.1%,占同期β-地中海贫血住院总数的51.72%,其中男11例,女4例;山区10例,沿海5例;发病年龄1个月～7岁,平均年龄1.33岁;随访4年,12例出院后7天～4年内死亡,1例第2次住院时死亡,2例失访。结论β-地中海贫血目前尚缺少有效的治疗方法,现有的治疗包括一般治疗（含输血治疗、铁鳌合剂治疗、脾切除和脾栓塞治疗）、药物治疗（含r-基因活化治疗、抗脂质过氧化治疗、α-肽链合成抑制剂治疗）、造血干细胞移植（HSCT,含骨髓移植、BMT、脐血移植UCBT、外周血造血干细胞移植PBCCT）及基因治疗等,后二者被认为是目前根治重型β-地中海贫血的最佳方法。对夫妇双方均为地中海贫血基因携带者的孕妇,在妊娠早期或中期进行产前诊断,防止重型β-地中海贫血患儿的出生,是最积极、有效的预防措施。Objective： Pass through review analysis 15 cases She nationality children with β-thalassemia inpast 13 years in east of Fujian, preliminary summary various therapeutic methods and advance to interfere measure. Methods ： Using review method make on clinical analysis 15 cases She nationality children with β-thalassemia inpast 13 years in east of Fujian. Results： Population of Hart nationality are 3000000, population of She nationality is 200000, population proportion is 15 ： 1, admission rate of Han nationality children with β- thalassemiais 0. 0046%0, She nationality children with β- thalassemia is 0. 05‰, admission rate proportion is 1 ： 12. 1, according to population proportion admission rate in the She nationality hight than the Han nationality, U = 3.98, P 〈 0. 01, have marked discrepancy. Admission rate in the She nationality children with β- thalassemia make up 0. 05% of the total hemolytic diseases , make up 51.72% of the total suffer from β- thalassemia children. Among the she nationality children with β- thalassemia male have 11 cases, female have 4 cases, from mountain area have 10 cases , along the coadtal area have 5 cases, patients suffer from β- thalassemiaage from 1 month to 7 years, average age 1.33 years . At all time interview She nationality children with β- thalassemia 12 cases dead 7 days to4 years at discharged from hospital, lease dead during hissecond hospitalization, 2 caseslose interview. Conclusion： At pressentno one efficacious methods for β- thalassemia. The treatment now available to β- thalassemia have routine therapy （transfusion treatment , iron pincers agent treatment, anti - oxidational agent treatment, Chinese traditional drug streatment, splenectomy or spleen embolism treant）, gene therapy （γ- peptide chain activetreatment, gene aumentation, gene correction）, homopoiesis stem cell transplantation HSCT, bone marrow transplantation BMT, umbilical cord blood transplantation UCBT, peripheral blood stem celltrans plantation PBSCT/etc. At the back

关 键 词：闽东地区 畲族 小儿 Β-地中海贫血 临床分析 干预措施 

分 类 号：R725.5[医药卫生—儿科]