地中海贫血

朱易萍

四川大学华西第二医院儿科

THALASSAEMIA INTERNATIONAL FEDERATION

“In official relations with the World Health Organization”

HEADQUARTERS:

P.O. Box 28807, 2083 Strovolos; 31 Ifigenias Street, 3rd Floor, 2007 Strovolos, Cyprus

Tel:357-22-319129; Fax:357-22-314552, E-mail:thalassaemia@.cy

Web-site address: .cy

14 December 2006

Cichuan Thalassaemia Patients Group

Message from Mr. Panos Englezos, TIF Chairman

Dear Friends,

The Thalassaemia International Federation is pleased and encouraged to hear of your active involvement in the struggle against thalassaemia.We congratulate you for establishing this thalassaemia patients/parents group in Cichuan province of China,an initiative that will bring closer together on a platform of collaboration,mutual respect and understanding health professionals,patients and parents working to our united goal of improving the status of Clinical Management and the quality of life for Thalassaemia patients world wide.

TIF’s ever-increasing aim is to assist our Thalassaemia Associations to grow in strength and influence so that we can claim the attention of national health authorities to support programmes for thalassaemia on a country-wide basis.We want the national health authorities to recognise that thalassaemics can and do live full and productive lives when they are given optimal treatment,and that complications can be avoided with regular medical care and monitoring.We encourage you to act accordingly to ensure that all thalassaemics have appropriate access to the best possible treatment,and to institute countrywide policies for prevention of thalassaemia.

Our goal of optimal standards of treatment and prevention as we search for a final cure for thalassaemia can be achieved if we consolidate our efforts towards this common aim.TIF welcomes your participation in our global struggle against thalassaemia and we are pleased to count you among our members and collaborators.

Unity is our strength!

Panos Englezos

TIF Chairman

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（HbAα

β2）合成降低的一种高度异质

2

性的遗传性血红蛋白病。

分布

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。

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（α2β2）96%~98%；

–HbA2（α2 δ2）2%~3%；

–HbF (α2 γ2) <2%。