Gaucher disease for the hematologists

Yükleniyor...
Küçük Resim

Tarih

2022

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

Galenos Publication System

Erişim Hakkı

info:eu-repo/semantics/closedAccess

Özet

Gaucher disease (GD) is a rare hereditary lysosomal storage disease that arises due to deficiency of glucocerebrosidase. Early diagnosis is very important for starting proper treatment and preventing complications. Splenomegaly, anemia, and thrombocytopenia are the most common findings in GD and so most patients are initially referred to hematologists. The Turkish Society of Hematology established its Rare Hematological Diseases Subcommittee in 2015. One of the main topics of this subcommittee was to increase and improve awareness and education of rare diseases among hematologists in Turkey. This review presents GD with an overview of its clinical features, pathophysiology, and treatment options for hematologists.

Açıklama

Anahtar Kelimeler

Gaucher Disease, Anemia, Thrombocytopenia, Splenomegaly

Kaynak

Turkish Journal of Hematology

WoS Q Değeri

Q3

Scopus Q Değeri

Q3

Cilt

Sayı

Künye

Özdemir GN, Gündüz E. Gaucher Disease for the Hematologists. Turk J Haematol. 2022 Apr 20. doi: 10.4274/tjh.galenos.2022.2021.0683. Epub ahead of print. PMID: 35439918.