a First Affiliated Hospital of Nanchang University , Nanchang , Jiangxi , People's Republic of China.
b Jiangxi Province Blood Center , Nanchang , Jiangxi , People's Republic of China.
Platelets. 2017 Dec;28(8):829-831. doi: 10.1080/09537104.2017.1306044. Epub 2017 Jun 5.
A 38-year-old female patient was diagnosed with anemia for 3 years. Medical examination showed slight splenomegaly (250 × 62 mm), thrombocytopenia (platelets 51 × 10/L), anemia (Hb levels 107 g/L), and β-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 gene was 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.
一位 38 岁女性患者被诊断为贫血 3 年。体格检查显示轻度脾肿大（250×62mm）、血小板减少症（血小板 51×10/L）、贫血（Hb 水平 107g/L）和白细胞β-葡糖脑苷脂酶活性（GBA）低于正常。骨髓涂片的显微镜检查结果表明骨髓中的戈谢细胞和对其进行的过碘酸-Schiff 染色呈阳性。GBA 基因组和 cDNA 的测序鉴定出一个新的纯合突变，c.484A>G（p.Met162Val）。该病例提示我们应注意成人戈谢病作为隐匿性血小板减少症的鉴别诊断，并且首次报道了 GBA 基因的一个新的纯合突变。这种纯合性新突变显然与相对不常见于亚洲人群的轻度、非神经病变 1 型疾病有关。
