Two rare pathogenic HBB variants in a patient with beta-thalassemia intermedia

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dc.authoridVeysel Sabri Hançer / 0000-0003-2994-1077en_US
dc.authoridMurat Büyükdoğan / 0000-0001-7948-0235
dc.authorscopusidMurat Büyükdoğan / 35247676100
dc.authorscopusidVeysel Sabri Hançer / 6506533543
dc.authorwosidMurat Büyükdoğan / Y-2855-2018
dc.authorwosidVeysel Sabri Hançer / X-8971-2018
dc.contributor.authorHançer, Veysel Sabri
dc.contributor.authorFışgın, Tunç
dc.contributor.authorBüyükdoğan, Murat
dc.date.accessioned2020-08-30T20:06:19Z
dc.date.available2020-08-30T20:06:19Z
dc.date.issued2020
dc.departmentİstinye Üniversitesi, Tıp Fakültesi, Temel Tıp Bilimleri Bölümüen_US
dc.descriptionWOS: 000531086600014en_US
dc.description.abstractThe ?-thalassemias are a group of hereditary disorders with autosomal recessive inheritance characterized by the presence of defective synthesis of the ?-globin chain, an integral component of the hemoglobin molecule, resulting in either partial synthesis (?+) or complete absence (?0) [1]. The disease reaches a high frequency in the Mediterranean Basin, Africa, the Middle East, the Indian subcontinent, and Southeast Asia [2]. According to the World Health Organization, the frequency of abnormal hemoglobin is 7% globally [3]. ?-Thalassemia major is characterized by completely inhibited synthesis of beta chains [4], and so it must be treated, generally by transfusion therapy [4].en_US
dc.identifier.citationHancer, V. S., Fisgin, T., & Buyukdogan, M. (2020). Two Rare Pathogenic HBB Variants in a Patient with beta-Thalassemia Intermedia. TURKISH JOURNAL OF HEMATOLOGY, 37(2), 135–136. https://doi.org/10.4274/tjh.galenos.2020.2020.0020en_US
dc.identifier.doi10.4274/tjh.galenos.2020.2020.0020en_US
dc.identifier.endpage136en_US
dc.identifier.issn1300-7777en_US
dc.identifier.issn1308-5263en_US
dc.identifier.issue2en_US
dc.identifier.pmid32069775en_US
dc.identifier.scopus2-s2.0-85084271723en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage135en_US
dc.identifier.trdizinid365993en_US
dc.identifier.urihttps://doi.org/10.4274/tjh.galenos.2020.2020.0020
dc.identifier.urihttps://hdl.handle.net/20.500.12713/474
dc.identifier.volume37en_US
dc.identifier.wosWOS:000531086600014en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorHançer, Veysel Sabrien_US
dc.institutionauthorBüyükdoğan, Muraten_US
dc.language.isoenen_US
dc.publisherGalenos Yayinciliken_US
dc.relation.ispartofTurkish Journal of Hematologyen_US
dc.relation.publicationcategoryDiğeren_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectBeta Thalassemiaen_US
dc.subjectHbben_US
dc.subjectVariationen_US
dc.titleTwo rare pathogenic HBB variants in a patient with beta-thalassemia intermediaen_US
dc.title.alternativeBir beta talasemi intermedya hastasında iki nadir patojenik HBB varyantıen_US
dc.typeLetteren_US

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