Novel heterozygous c.798C&gt;G and c.1040T&gt;G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1

Maciej Machaczka,Monika Klimkowska

doi:10.1007/s00277-014-2036-x

Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1

Maciej Machaczka, Monika Klimkowska

Open Access

https://doi.org/10.1007/s00277-014-2036-x

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Abstract

Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1

Highlights

Dear Editor, Gaucher disease (GD) is a progressive, multisystem, autosomal recessive lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme, glucocerebrosidase, arising from mutations in the GBA1 gene (1q21) [1]
Histopathology of the spleen disclosed the presence of storage histiocytes with Gaucher cell morphology
The spleen histopathology disclosed a morphological picture of GD

Summary

Introduction

Dear Editor, Gaucher disease (GD) is a progressive, multisystem, autosomal recessive lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme, glucocerebrosidase, arising from mutations in the GBA1 gene (1q21) [1]. We report the case of a young Iranian woman, originating from the city of Ahvaz in the southwest Iran (Khuzestan Province) but living in Sweden since the age of 16 years. She was splenectomized 1 year later due to massive splenomegaly and increased bleeding tendency (Fig. 1a).

Results

Conclusion