地中海贫血ThalassemiaVIP免费

朱易萍四川大学华西第二医院儿科THALASSAEMIAINTERNATIONALFEDERATION“InofficialrelationswiththeWorldHealthOrganization”HEADQUARTERS:P.O.Box28807,2083Strovolos;31IfigeniasStreet,3rdFloor,2007Strovolos,CyprusTel:357-22-319129;Fax:357-22-314552,E-mail:thalassaemia@cytanet.com.cyWeb-siteaddress:http://www.thalassaemia.org.cy14December2006CichuanThalassaemiaPatientsGroupMessagefromMr.PanosEnglezos,TIFChairmanDearFriends,TheThalassaemiaInternationalFederationispleasedandencouragedtohearofyouractiveinvolvementinthestruggleagainstthalassaemia.Wecongratulateyouforestablishingthisthalassaemiapatients/parentsgroupinCichuanprovinceofChina,aninitiativethatwillbringclosertogetheronaplatformofcollaboration,mutualrespectandunderstandinghealthprofessionals,patientsandparentsworkingtoourunitedgoalofimprovingthestatusofClinicalManagementandthequalityoflifeforThalassaemiapatientsworldwide.TIF’sever-increasingaimistoassistourThalassaemiaAssociationstogrowinstrengthandinfluencesothatwecanclaimtheattentionofnationalhealthauthoritiestosupportprogrammesforthalassaemiaonacountry-widebasis.Wewantthenationalhealthauthoritiestorecognisethatthalassaemicscananddolivefullandproductiveliveswhentheyaregivenoptimaltreatment,andthatcomplicationscanbeavoidedwithregularmedicalcareandmonitoring.Weencourageyoutoactaccordinglytoensurethatallthalassaemicshaveappropriateaccesstothebestpossibletreatment,andtoinstitutecountrywidepoliciesforpreventionofthalassaemia.Ourgoalofoptimalstandardsoftreatmentandpreventionaswesearchforafinalcureforthalassaemiacanbeachievedifweconsolidateoureffortstowardsthiscommonaim.TIFwelcomesyourparticipationinourglobalstruggleagainstthalassaemiaandwearepleasedtocountyouamongourmembersandcollaborators.Unityisourstrength!PanosEnglezosTIFChairman定义地中海贫血：海洋性贫血，珠蛋白生成障碍性贫血由于珠蛋白基因缺陷（突变、缺失等）导致一种或多种珠蛋白肽链生物合成减少或完全被抑制，珠蛋白肽链间的正常平衡异常、正常成人型Hb（HbA22）合成降低的一种高度异质性的遗传性血红蛋白病。地中海沿岸、东南亚为高发地区。中国南方长江以南省份（广东、广西、四川、云南和贵州）本病发病率高。分布发生率据统计世界上有2.7亿人携带地贫基因，全球每年有10万重型地贫患儿出生香港地区地贫基因携带者:8.4%发生率（地贫）:四川(80年代）2.18%全国第二广东(最新)7.8%全国第一Hb的结构、组成血红蛋白(hemoglobin,Hb)由珠蛋白和血红素组成珠蛋白由两种珠蛋白肽链组成的四聚体（tetramer）血红素由原卟啉和亚铁离子(Fe2+)组成F正常2岁~成人Hb的组成和比例–HbA（22）96%~98%；–HbA2（22）2%~3%；–HbF(22)<2%。分型根据肽链合成障碍的不同，一般将地中海贫血分为–-地贫；-地贫；-地贫；-地贫–-地贫由基因的点突变所致。–-地贫一般由基因的缺失（deletion）引起；地中海贫血的病理生理一种或多种珠蛋白基因缺陷一种或多种珠蛋白肽链合成减少或缺如其他类型珠蛋白肽链相对过多珠蛋白肽链合成间的平衡异常正常Hb的生物合成降低--贫血过剩的珠蛋白肽链沉积于RBC，RBC被破坏–无效造血和溶血骨髓造血代偿性增强，肠道铁吸收增加，输血--继发性铁负荷增多症分子遗传学分型–纯合子•0/0：0纯合子•+/+：+纯合子–杂合子•0/+：0/+双重杂合子•0/：0杂合子•+/：+杂合子临床分型–重型（-Thalassemiamajor,Cooley’anemia）–中间型(-Thalassemiaintermediate)–轻型(-Thalassemiaminor)-地中海贫血地中海贫血遗传学（单基因遗传病，常染色体不完全显性遗（单基因遗传病，常染色体不完全显性遗传）传）地贫的病因和基因突变β地中海贫血是由于β珠蛋白基因缺...