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

Abstract:

:A 38-year-old female patient was diagnosed with anemia for 3 years. Medical examination showed slight splenomegaly (250 × 62 mm), thrombocytopenia (platelets 51 × 109/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.

journal_name

Platelets

journal_title

Platelets

authors

Wan L,Wu H,Xie F,Nie Y

doi

10.1080/09537104.2017.1306044

subject

Has Abstract

pub_date

2017-12-01 00:00:00

pages

829-831

issue

8

eissn

0953-7104

issn

1369-1635

journal_volume

28

pub_type

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