First report of an Asian family with hemoglobin Evans [α2 62 (E11) Val → Met]
2016
HemoglobinEvans is an unstable variant caused by a single nucleotide mutation that produces a
valine-to-methionine substitution at residue 62 of the α-
globinchain. 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 anemiawith
hemoglobinEvans after
genetic testing. This is the first familial case of
hemoglobinEvans in an Asian population.
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