Identification of a novel ANK1 c.856C>T nonsense mutation in two patients from a Chinese family with hereditary spherocytosis by NGS

Hereditary spherocytosis (HS) is a common inherited heterogeneous hemolytic anemia that is characterized by the presence of spheroidal erythrocytes on the peripheral blood smear. Mutations in ankyrin gene (ANK1) is the most common cause of HS in Northern European populations and Chinese patients but is seen in only 5–10% of Japanese patients. The majority of them are familial mutations inherited in an autosomal dominant form. In this study, a heterozygous ANK1 c.856C>T mutation was identified in a 2-hour-old newborn with severe jaundice using targeted next-generation sequencing (NGS) and Sanger sequencing, and was confirmed to be inherited from his mother.