title: Identification of the molecular genetic defect of patients with methemoglobin M-Kankakee (M-Iwate), alpha87 (F8) His --> Tyr: evidence for an electrostatic model of alphaM hemoglobin assembly.
abstract: We determined that the molecular defect of 2 patients with hemoglobin (Hb) M-Kankakee [Hb M-Iwate, alpha87 (F8) His --> Tyr] resides in the alpha1-globin gene. The proportion of Hb M observed is higher than that predicted for an alpha1-globin variant. Our evidence suggests that the greater-than-expected proportion of Hb M-Kankakee results from preferential association of the electronegative beta-globin chains with the alpha(M)-globin chains that are more electropositive than normal alpha-globin chains.
authors.affiliation: Division of Pediatric Hematology-Oncology and the Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA. aameri@umich.edu
authors.forename: A
authors.initials: A
authors.lastname: Ameri
authors.forename: V F
authors.initials: VF
authors.lastname: Fairbanks
authors.forename: G A
authors.initials: GA
authors.lastname: Yanik
authors.forename: F
authors.initials: F
authors.lastname: Mahdi
authors.forename: S N
authors.initials: SN
authors.lastname: Thibodeau
authors.forename: D J
authors.initials: DJ
authors.lastname: McCormick
authors.forename: L A
authors.initials: LA
authors.lastname: Boxer
authors.forename: K T
authors.initials: KT
authors.lastname: McDonagh
mesh_terms: D005260:Female; D006449:Hemoglobin M / Q000737:chemistry / Q000235:genetics*; D006639:Histidine; D006801:Humans; D017354:Point Mutation; D055672:Static Electricity; D014443:Tyrosine
chemical_list: D014443:Tyrosine; D006639:Histidine; C027542:hemoglobin M Iwate; D006449:Hemoglobin M