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Article

A Novel de novo Mutation in ANK1 Gene Identified through Targeted Next-Generation Sequencing in a Neonate with Hereditary Spherocytosis.

Annals of clinical and laboratory science - 1 Jan 2021

Jang Woori, Kim Soon Ki, Nahm Chung Hyun, Choi Jong Weon, Kim Jin Ju, Moon Yeonsook

Abstract excerpt

Hereditary spherocytosis (HS) is a congenital disorder of the red blood cell membrane and is characterized by hemolytic anemia, variable jaundice, and splenomegaly. In neonates, the diagnosis of HS can be difficult in the absence of family history. Herein, we describe clinical and molecular genetic findings in a Korean neonate with HS. A one-month-old girl presented with severe anemia and jaundice. Spherocytes...

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PMID: 33653793

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