Gaucher Disease for Hematologists

Ozdemir G. N., GÜNDÜZ E.

TURKISH JOURNAL OF HEMATOLOGY, cilt.39, sa.2, ss.136-139, 2022 (SCI-Expanded) identifier identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 39 Sayı: 2
  • Basım Tarihi: 2022
  • Doi Numarası: 10.4274/tjh.galenos.2021.2021.0683
  • Dergi Adı: TURKISH JOURNAL OF HEMATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.136-139
  • Anahtar Kelimeler: Gaucher disease, Anemia, Thrombocytopenia, Splenomegaly, ENZYME REPLACEMENT THERAPY, VELAGLUCERASE ALPHA, EARLY-DIAGNOSIS, TYPE-1, CHITOTRIOSIDASE, MANIFESTATIONS, IMIGLUCERASE, INVOLVEMENT, EXPERIENCE, MANAGEMENT
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

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.