Gaucher disease and β-thalassemia: A rare coinheritance

Blood Cells Mol Dis. 2017 Jun:65:35-37. doi: 10.1016/j.bcmd.2017.04.007. Epub 2017 Apr 21.

Authors

Alexandros Makis¹, Meropi Tzoufi², Eleni Pappa³, Ioannis Kyrochristos⁴, Anastasia Zikou⁵, Vasileios Xydis⁵, Maria I Argyropoulou⁵, Nikolaos Chaliasos²

Affiliations

¹ Child Health Department, Faculty of Medicine, University of Ioannina, Ioannina, Greece. Electronic address: [email protected].
² Child Health Department, Faculty of Medicine, University of Ioannina, Ioannina, Greece.
³ Department of Internal Medicine, Faculty of Medicine, University of Ioannina, Ioannina, Greece.
⁴ Department of Surgery, Faculty of Medicine, University of Ioannina, Ioannina, Greece.
⁵ Department of Radiology, Faculty of Medicine, University of Ioannina, Ioannina, Greece.

PMID: 28458077
DOI: 10.1016/j.bcmd.2017.04.007

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Child
Enzyme Replacement Therapy / methods
Gaucher Disease / complications*
Gaucher Disease / diagnostic imaging
Gaucher Disease / genetics
Gaucher Disease / therapy
Glucosylceramidase / therapeutic use
Hepatomegaly / complications*
Hepatomegaly / diagnostic imaging
Hepatomegaly / genetics
Hepatomegaly / therapy
Humans
Magnetic Resonance Imaging
Male
Mutation
Paternal Inheritance*
Splenomegaly / complications*
Splenomegaly / diagnostic imaging
Splenomegaly / genetics
Splenomegaly / therapy
beta-Globins / genetics
beta-Thalassemia / complications*
beta-Thalassemia / diagnostic imaging
beta-Thalassemia / genetics
beta-Thalassemia / therapy

Substances

beta-Globins
Glucosylceramidase
imiglucerase