Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis.

doi:10.1111/ejh.14194

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Article

Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis.

European journal of haematology - 1 Jul 2024

Isik Esra, Aydinok Yesim, Albayrak Canan, Durmus Basak, Karakas Zeynep, Orhan Mehmet Fatih, Sarper Nazan, Aydın Sultan, Unal Selma, Oymak Yesim, Karadas Nihal, Turedi Aysen, Albayrak Davut, Tayfun Funda, Tugcu Deniz, Karaman Serap, Tobu Mahmut, Unal Ekrem, Ozcan Alper, Unal Sule, Aksu Tekin, Unuvar Aysegul, Bilici Mustafa, Azik Fatih, Ay Yilmaz, Gelen Sema Aylan, Zengin Emine, Albudak Esin, Eker Ibrahim, Karakaya Taner, Cogulu Ozgur, Ozkinay Ferda, Atik Tahir

Abstract excerpt

OBJECTIVES: In congenital hemolytic anemias (CHA), it is not always possible to determine the specific diagnosis by evaluating clinical findings and conventional laboratory tests. The aim of this study is to evaluate the utility of next-generation sequencing (NGS) and clinical-exome-based copy number variant (CNV) analysis in patients with CHA. METHODS: One hundred and forty-three CHA cases from 115 unrelated...

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PMID: 38556258
DOI: 10.1111/ejh.14194

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