Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis.
Esra IsikYesim AydinokCanan AlbayrakBasak DurmusZeynep KarakasMehmet Fatih OrhanNazan SarperSultan Aydin KökerSelma UnalYeşim OymakNihal KaradaşAyşen Türedi YıldırımDavut AlbayrakFunda Tayfun KüpesizDeniz TuğcuSerap KaramanMahmut TöbüEkrem ÜnalAlper OzcanSule UnalTekin AksuAyşegül ÜnüvarMustafa BiliciFatih Mehmet AzıkYilmaz AySema Aylan GelenEmine ZenginEsin AlbudakIbrahim EkerTaner KarakayaOzgur CoguluFerda ÖzkınayTahir AtikPublished in: European journal of haematology (2024)
In this study, NGS provided a high molecular diagnostic rate in cases with rare CHA. Analysis of the CNVs contributed to the diagnostic success.