First report of an Asian family with hemoglobin Evans [α2 62 (E11) Val → Met]. Issue 4 (11th December 2015)

• Record Type: Journal Article
• Authors: Ishimaru, Sae; Saito, Yuya; Yokokawa, Yuichi; Yuza, Yuki; Kaneko, Takashi
• Is Part Of: Pediatrics international. Volume 58:Issue 4(2016)
• Page Start: 301
• Page End: 303
• Publication Date: 2015-12-11
• Subjects: aplastic crisis -- chronic hemolytic anemia -- hemoglobin Evans -- neonatal jaundice -- unstable hemoglobin; Pediatrics -- Periodicals; 618.92
• DOI: 10.1111/ped.12775
• Languages: English
• ISSNs: 1328-8067

Abstract

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.