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Med J Bakirkoy. 2010; 6(1): 35-38


Importance of jak-2 gene mutation in the diagnosis of polycythemia vera: a case report and review of the literature

Hasan Mağın, M. Fatih Akdoğan, Çetin Uyanık, Murat Gücün, Fatih Palit, Murat Duranay.

Abstract
Polycythemia vera is an acquired myeloproliferative disorder that causes overproduction of all three hematopoietic cell lines, most prominently the red blood cells. The most common of the chronic myeloproliferative disorders, polycythemia vera occurs in about 0,5-2 per 100,000 persons. A slight overall male predominance has been observed, but females predominate within the reproductive age range. In this case report, We aimed to emphasize that cytogenetic analysis recently is important in the diagnosis of polycythemia vera.

Key words: Polycythemia vera, Jak-2 gene mutation, gastrointestinal bleeding



Polisitemia vera tanısında jak-2 gen mutasyonunun önemi: Olgu sunumu ve literatürün gözden geçirilmesi

Özet
Polisitemia vera ön planda eritrosit olmak üzere her üç hematopoetik hücre dizisinin aşırı üretimi ile sonuçlanan edinsel bir myeloproliferatif hastalıktır. Kronik myeloproliferatif hastalıklar içerisinde en sık görülen polisitemia vera, 100000’de 0,5-2 oranında görülür. Genel anlamda hafif erkek üstünlüğü gözlense de, üretken yaş aralığı bayanlarda bir baskınlık mevcuttur. Bu olgu sunumundaki amacımız, sitogenetik analizin son zamanlarda polisitemia vera tanısındaki önemini vurgulamaktır.

Anahtar Kelimeler: Polisitemia vera, Jak-2 gen mutasyonu, gastrointestinal kanama



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