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

被引：17

作者：

Ittiwut, Chupong ^{[1
,2
]}

Natesirinilkul, Rungrote ^{[3
]}

Tongprasert, Fuanglada ^{[4
]}

Sathitsamitphong, Lalita ^{[3
]}

Choed-amphai, Chane ^{[3
]}

Fanhchaksai, Kanda ^{[3
]}

Charoenkwan, Pimlak ^{[3
]}

Suphapeetiporn, Kanya ^{[1
,2
]}

Shotelersuk, Vorasuk ^{[1
,2
]}

机构：

[1] Chulalongkorn Univ, Dept Paediat, Fac Med, Ctr Excellence Med Genom, Bangkok, Thailand

[2] Thai Red Cross Soc, King Chulalongkorn Mem Hosp, Excellence Ctr Med Genet, Bangkok, Thailand

[3] Chiang Mai Univ, Dept Paediat, Fac Med, Chiang Mai, Thailand

[4] Chiang Mai Univ, Fac Med, Dept Obstet & Gynaecol, Chiang Mai, Thailand

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2019年 / 185卷 / 03期

关键词：

fetal anaemia; hereditary pyropoikilocytosis; hydrops fetalis; red blood cell membrane disorders; whole exome sequencing; LOW-EXPRESSION ALLELE; SPECTRIN; ELLIPTOCYTOSIS; ALPHA(LELY);

D O I：

10.1111/bjh.15559

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：578 / 582

页数：5

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