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Identification of a De Novoc.1000delA ANK1 mutation associated to hereditary spherocytosis in a neonate with Coombs-negative hemolytic jaundice-case reports and review of the literature.

Lichun XieZhihao XingChanggang LiSi-Xi LiuFei-Qiu Wen
Published in: BMC medical genomics (2021)
Genetic detection is an important means of discovering the cause of hemolytic anemia in neonates and infants where routine diagnostic tests are unrevealing. We found a novel de novo mutation, c.1000delA (p.1334Sfs*6) in ANK1 that might account for other cases of HS in the Chinese population.
Keyphrases
  • chronic kidney disease
  • case report
  • clinical practice
  • genome wide
  • iron deficiency
  • gene expression
  • copy number
  • preterm birth
  • sensitive detection