title: Multidisciplinary clinical management of paroxysmal nocturnal hemoglobinuria.
abstract: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired disease caused by clonal expansion of one or more hematopoietic stem cell (HSC) lines due to a somatic mutation of the phosphatidylinositol glycan anchor (PIG-A) gene located on Xp22.1. PNH incidence is 1.5-2 cases per million of the population per year. PNH can affect multiple systems in the body and requires multidisciplinary clinical management. Patients can manifest with severe pancytopenia, life-threatening thrombosis affecting the hepatic, abdominal, cerebral, and subdermal veins, and high requirements for blood transfusion due to haemolytic anemia. PNH can also be associated with bone marrow failure. Advances in diagnostic techniques and a targeted therapeutic approach for PNH have emerged in the last two decades. Eculizumab, a promising humanized monoclonal antibody against C5, is the first approved therapy for PNH.
authors.affiliation: Department of Hematology, Ege University Izmir.
authors.forename: Fahri
authors.initials: F
authors.lastname: Sahin
authors.affiliation: Department of Hematology, Ege University Izmir.
authors.forename: Melda Comert
authors.initials: MC
authors.lastname: Ozkan
authors.affiliation: Department of Immunology, Ege University Izmir.
authors.forename: Nihal Gokmen
authors.initials: NG
authors.lastname: Mete
authors.affiliation: Department of Nephrology, Ege University Izmir.
authors.forename: Mumtaz
authors.initials: M
authors.lastname: Yilmaz
authors.affiliation: Department of Gastroenterology, Ege University Izmir.
authors.forename: Nevin
authors.initials: N
authors.lastname: Oruc
authors.affiliation: Department of Pulmonary Medicine, Ege University Izmir.
authors.forename: Alev
authors.initials: A
authors.lastname: Gurgun
authors.affiliation: Department of Cardiology, Ege University Izmir.
authors.forename: Meral
authors.initials: M
authors.lastname: Kayikcioglu
authors.affiliation: Department of Neurology, Ege University Izmir.
authors.forename: Ayse
authors.initials: A
authors.lastname: Guler
authors.affiliation: Department of Neurology, Ege University Izmir.
authors.forename: Figen
authors.initials: F
authors.lastname: Gokcay
authors.affiliation: Division of Immunology, Ataturk Education and Research Hospital, Katip Celebi University Izmir.
authors.forename: Ferda
authors.initials: F
authors.lastname: Bilgir
authors.affiliation: Department of Hematology, Izmir Tepecik Education and Research Hospital Izmir.
authors.forename: Cengiz
authors.initials: C
authors.lastname: Ceylan
authors.affiliation: Department of Hematology, Izmir Bozyaka Training and Research Hospital Izmir.
authors.forename: Oktay
authors.initials: O
authors.lastname: Bilgir
authors.affiliation: Department of Hematology, Pamukkale University Denizli.
authors.forename: Ismail Hakan
authors.initials: IH
authors.lastname: Sari
authors.affiliation: Department of Hematology, Ege University Izmir.
authors.forename: Guray
authors.initials: G
authors.lastname: Saydam
keywords: Paroxysmal nocturnal hemoglobinuria; diagnosis; eculizumab; treatment