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Updated: Mar 28, 2026

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
First report of an Asian family with hemoglobin Evans [α2 62 (E11) Val → Met]
Sae Ishimaru1, Yuya Saito1, Yuichi Yokokawa1
1Division 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.
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