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First report of an Asian family with hemoglobin Evans [α2 62 (E11) Val → Met]
Author(s) -
Ishimaru Sae,
Saito Yuya,
Yokokawa Yuichi,
Yuza Yuki,
Kaneko Takashi
Publication year - 2016
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12775
Subject(s) - medicine , hemoglobin , evans syndrome , hemoglobin variants , anemia , mutation , hemolytic anemia , valine , population , genetics , gene , amino acid , environmental health , autoimmune hemolytic anemia , biology
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.