Thrombocytopenia and GBA gene mutation in a patient with adult type 1 Gaucher disease
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...
| Published in: | Platelets |
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| Main Authors: | , , , |
| Format: | Article |
| Language: | English |
| Published: |
Taylor & Francis Group
2017-11-01
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| Subjects: | |
| Online Access: | http://dx.doi.org/10.1080/09537104.2017.1306044 |
| Summary: | 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. |
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| ISSN: | 0953-7104 1369-1635 |