Platelet transfusion refractoriness caused by GBA gene mutation in one patient with Gaucher disease
10.13602/j.cnki.jcls.2017.05.03
- VernacularTitle:戈谢病GBA基因突变致血小板输注无效1例
- Author:
Hong WU
;
Mei JIANG
;
Fang WEN
;
Yijun NIE
- Keywords:
platelet transfusion refractoriness;
Gaucher disease;
GBA gene mutation
- From:
Chinese Journal of Clinical Laboratory Science
2017;35(5):330-333
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the mutation characteristics of GBA gene in one patient with Gaucher disease and platelet transfusion refractoriness.Methods A female patient with anemia and thrombocytopenia showed platelet transfusion refractoriness,and then the proband and her family were performed bone marrow smear,β-glucocerebrosidase activity in leukocytes (dried blood spot assay),Bultrasonography and gene sequencing examination and pedigree investigation.Results Pedigree investigation showed that the heterozygous mutation of GBA gene existed in the father,mother,son,daughter and sister of the proband.Bone marrow cytomorphologic examination showed that Gaucher cells accounted for 6.0％ in the female patient.The β-glucocerebrosidase activity in leukocytes was 3.78 nmol/(h · mg Pro).B-ultrasonography showed slightly splenomegaly.Gene sequencing found that the homozygous mutation of GBA gene,c.484A ＞ G,existed in the female patient.Conclusion The patients with Gaucher disease may appear platelet transfusion refractoriness due to hypersplenism.The mutation of GBA gene is the main pathogenic factor of the family with Gaucher disease.
