Article
First report of an Asian family with hemoglobin Evans [α2 62 (E11) Val → Met].
Pediatrics international : official journal of the Japan Pediatric Society - 1 Apr 2016
Ishimaru Sae, Saito Yuya, Yokokawa Yuichi, Yuza Yuki, Kaneko Takashi
Abstract excerpt
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...
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