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.
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.
Ameri
A
A
Division of Pediatric Hematology-Oncology and the Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA. aameri@umich.edu
Fairbanks
V F
VF
Yanik
G A
GA
Mahdi
F
F
Thibodeau
S N
SN
McCormick
D J
DJ
Boxer
L A
LA
McDonagh
K T
KT
D005260:Female; D006449:Hemoglobin M / Q000737:chemistry / Q000235:genetics*; D006639:Histidine; D006801:Humans; D017354:Point Mutation; D055672:Static Electricity; D014443:Tyrosine
D014443:Tyrosine; D006639:Histidine; C027542:hemoglobin M Iwate; D006449:Hemoglobin M