First report of an Asian family with hemoglobin Evans [α2 62 (E11) Val → Met]

@article{Ishimaru2016FirstRO,
  title={First report of an Asian family with hemoglobin Evans [α2 62 (E11) Val → Met]},
  author={S. Ishimaru and Y. Saito and Y. Yokokawa and Y. Yuza and T. Kaneko},
  journal={Pediatrics International},
  year={2016},
  volume={58},
  pages={301 - 303}
}
  • S. Ishimaru, Y. Saito, +2 authors T. Kaneko
  • Published 2016
  • Medicine
  • Pediatrics International
  • Hemoglobin Evans is an unstable variant caused by a single nucleotide mutation that produces a valine‐to‐methionine substitution at residue 62 of the α‐globin chain. It has not been reported in the Asian population and only three cases have been reported worldwide. We diagnosed a Japanese boy with chronic hemolytic anemia with hemoglobin Evans after genetic testing. This is the first familial case of hemoglobin Evans in an Asian population. 
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