Thrombocytopenia and GBA gene mutation in a patient with adult type 1 Gaucher disease.
Platelets
; 28(8): 829-831, 2017 Dec.
Article
em En
| MEDLINE
| ID: mdl-28580830
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 ß-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.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Trombocitopenia
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Doença de Gaucher
Tipo de estudo:
Prognostic_studies
Limite:
Adult
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Female
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Humans
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article