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Melike Sezgin Evim on Muck Rack

Melike Sezgin Evim

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Advanced Molecular Analysis in Hemophilia A in a Single Step: Next Generation Sequencing (NGS) and Copy Number Variation (CNV) Analysis

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By Enise Avci Durmusalioglu, Esra Isik, Basak Durmus Ozen, Mehmet Mert Topaloglu, Nihal Karadaş, Kaan Kavakli, Melike Sezgin Evim, Tolga Aslan, Erşen Kavak, Adalet Meral Güneş, Funda Tayfun Kupesiz, Alphan Küpesiz, Fahri Şahin, Tahir Atik
| Wiley Online Library Verified
1 Introduction Hemophilia A is an X-linked inherited bleeding disorder with a wide clinical spectrum ranging from mild to severe forms, with an estimated prevalence of 24.6 per 100 000 male births [1]. It is caused by pathogenic variants in the F8 gene, which encodes the coagulation factor VIII (FVIII) [2]. The type of underlying genetic alteration strongly correlates with plasma factor activity, bleeding phenotype, disease severity, and the risk of developing inhibitors during treatment [3-5].
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