地中海贫血的诊断技术

刘 大玉, 普翠 芬*, 王 雪茵
大理大学第一附属医院

摘要

地中海贫血（Thalassemia）又称海洋性贫血，是因人体珠蛋白基因缺失或突变而引起的一种慢性溶血性贫血。它
是一种常染色体隐性遗传病，通过婚前及产前检查等方式对育龄期妇女进行地贫的筛查和诊断，避免严重地贫儿童的出生，
同时对降低严重地贫新生儿的出生率起到尤为突出的作用。

关键词

地中海贫血；珠蛋白；基因突变

参考

[1] Kattamis A，Kwiatkowski JL，Aydinok Y．

Thalassaemia[J]．Lancet，2022，399(10343):2310 － 2324.

[2] Lee JS, Cho SI, Park SS, et al. Molecular basis and

diagnosis of thalassemia [J]. Blood Res,2021, 56(S1): S39-S43.

[3] Vijian D, Wan Ab Rahman WS, Ponnuraj KT, Zulkafli Z,

Mohd Noor NH.Molecular detection of alpha thalassemia: a review

of prevalent techniques. Medeni Med J. (2021) 36:257–69.

[4]]Lin M, Wang Q, Zheng L, et al. Prevalence and molecular

characterization of abnormal hemoglobin in eastern Guangdong of

southern China. Clin Genet,2012, 81(2): 165-171.

[5]Clark BE, Shooter C, Smith F , Brawand D, Thein SL.

Next-generation sequencing as a tool for breakpoint analysis in

rearrangements of the globin gene clusters. Int J Lab Hematol.

(2017) 39:111–20.

[6]Zhao J, Li J, Lai Q, et al. Combined use of gap-PCR

and next-generation sequencing improves thalassaemia carrier

screening among premarital adults in China. J Clin Pathol. 2020

Aug;73(8):488-492.

[7]Chen P, Yu X, Huang H, Zeng W, He X, Liu M, et

al. Evaluation of Ion Torrent next-generation sequencing for

thalassemia diagnosis.J Int Med Res.(2020) 48:300060520967778.