Novel mutations in SPTA1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia.

Ittiwut C, Natesirinilkul R, Tongprasert F, Sathitsamitphong L, Choed-Amphai C, Fanhchaksai K, Charoenkwan P, Suphapeetiporn K, Shotelersuk V.

Br J Haematol. 2018 Sep 10.

คลิกเพื่อดูข้อมูลผลงานตีพิมพ์

KEYWORDS:

 

fetal anaemia; hereditary pyropoikilocytosis; hydrops fetalis; red blood cell membrane disorders; whole exome sequencing