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A large family of hereditary spherocytosis and a rare case of hereditary elliptocytosis with a novel SPTA1 mutation underdiagnosed in Taiwan: A case report and literature review.

Yu-Hung ShihYing-Chih HuangChing-Yeh LinHsuan-Yu LinSu-Feng KuoJen-Shiou LinMing-Ching Shen
Published in: Medicine (2023)
We reported two Taiwanese families, one was hereditary spherocytosis affected by a heterozygous mutation with c.166A > G (p.Lys56Glu) in SLC4A1, and the other was hereditary elliptocytosis caused by a novel heterozygous SPTA1 gene mutation, c. 86A > C, p.Gln29Prol. These 2 seemingly common hereditary red blood cell membrane protein defects induced by hemolysis are usually underdiagnosed or misdiagnosed.
Keyphrases
  • red blood cell
  • rare case
  • early onset