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First report of an Asian family with hemoglobin Evans [α2 62 (E11) Val → Met]
Authors:Sae Ishimaru  Yuya Saito  Yuichi Yokokawa  Yuki Yuza  Takashi Kaneko
Institution:Division of Hematology and Oncology, Tokyo Metropolitan Children's Medical Center, Fuchu, Tokyo, Japan
Abstract: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.
Keywords:aplastic crisis  chronic hemolytic anemia  hemoglobin Evans  neonatal jaundice  unstable hemoglobin
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