Thrombocytopenia and GBA gene mutation in a patient with adult type 1 Gaucher disease

被引:0
|
作者
Wan, Lagen [1 ]
Wu, Hong [2 ]
Xie, Fuyuan [1 ]
Nie, Yijun [1 ]
机构
[1] Nanchang Univ, Affiliated Hosp 1, Nanchang 330006, Jiangxi, Peoples R China
[2] Jiangxi Prov Blood Ctr, Nanchang, Jiangxi, Peoples R China
基金
中国国家自然科学基金;
关键词
Gaucher cells; GBA gene mutation; thrombocytopenia; type 1 Gaucher disease; VON-WILLEBRAND DISEASE; HUMAN PLATELET ANTIGENS; ALLOIMMUNE THROMBOCYTOPENIA; 2B; FREQUENCY; ALLOANTIBODIES; MANAGEMENT; DIAGNOSIS; FETUS;
D O I
10.1080/09537104.2017.1306044
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
A 38-year-old female patient was diagnosed with anemia for 3 years. Medical examination showed slight splenomegaly (250 x 62 mm), thrombocytopenia (platelets 51 x 10(9)/L), anemia (Hb levels 107 g/L), and beta-glucocerebrosidase activity (GBA) in leukocytes was lower than normal. Microscopic findings of bone marrow smear demonstrated that Gaucher cells in bone marrow and periodic acid-Schiff staining of them were positive. Sequencing of GBA genomic and cDNA identified one novel homozygous mutation, c.484A>G (p. Met162Val). This case suggests that we should pay attention to adult Gaucher disease as a differential diagnosis for cryptogenic thrombocytopenia and one novel homozygous mutation in GBA genewas reported for the first time. The novel mutation in homozygosity is apparently associated with mild, non-neuronopathic type 1 disease which is relatively uncommon in Asian populations.
引用
收藏
页码:829 / 831
页数:3
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