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