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