Two fetal hemoglobin variants affecting the same residue: Hb F-Emirates [G gamma 59(E3)Lys-->Glu] and Hb F-Sacromonte [G gamma 59(E3)Lys-->Gln].
Two fast-moving fetal hemoglobin variants were discovered in hematologically normal newborn babies; the first originated in the United Arab Emirates and the second in France. The structural study, carried out by miniaturized techniques of protein chemistry, showed that these two mutations affected the same residue of the G gamma chain, the lysine at position 59(E3) was replaced by glutamic acid in Hb F-Emirates, and by glutamine in Hb F-Sacromonte.
Abbes
S
S
Département de Biochimie, Faculté de Médicine de Tunis.
Fitzgerald
P A
PA
Varady
E
E
Girot
R
R
Pic
P
P
Blouquit
Y
Y
Ducrocq
R
R
Drupt
F
F
Wajcman
H
H
D000595:Amino Acid Sequence; D005260:Female; D005319:Fetal Hemoglobin / Q000737:chemistry / Q000235:genetics; D005602:France; D005914:Globins / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D014479:United Arab Emirates
D006455:Hemoglobins, Abnormal; C095958:hemoglobin F-Emirates; C082238:hemoglobin F-Sacromonte; D005914:Globins; D005319:Fetal Hemoglobin