title: First report of an Asian family with hemoglobin Evans [α2 62 (E11) Val → Met].
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.
authors.affiliation: Division of Hematology and Oncology, Tokyo Metropolitan Children's Medical Center, Fuchu, Tokyo, Japan.
authors.forename: Sae
authors.initials: S
authors.lastname: Ishimaru
authors.affiliation: Division of Hematology and Oncology, Tokyo Metropolitan Children's Medical Center, Fuchu, Tokyo, Japan.
authors.forename: Yuya
authors.initials: Y
authors.lastname: Saito
authors.affiliation: Division of Hematology and Oncology, Tokyo Metropolitan Children's Medical Center, Fuchu, Tokyo, Japan.
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Yokokawa
authors.affiliation: Division of Hematology and Oncology, Tokyo Metropolitan Children's Medical Center, Fuchu, Tokyo, Japan.
authors.forename: Yuki
authors.initials: Y
authors.lastname: Yuza
authors.affiliation: Division of Hematology and Oncology, Tokyo Metropolitan Children's Medical Center, Fuchu, Tokyo, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Kaneko
mesh_terms: D000510:Alpha-Globulins / Q000235:genetics*; D019943:Amino Acid Substitution; D000743:Anemia, Hemolytic / Q000097:blood* / Q000235:genetics; D015415:Biomarkers / Q000097:blood; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007223:Infant; D007564:Japan; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: D000510:Alpha-Globulins; D015415:Biomarkers; D006455:Hemoglobins, Abnormal; C062318:hemoglobin Evans; D004247:DNA
keywords: aplastic crisis; chronic hemolytic anemia; hemoglobin Evans; neonatal jaundice; unstable hemoglobin