HbF-Lesvos: an HbF variant due to a novel G gamma mutation (:G gamma 75 ATA-->ACA) detected in a Greek family.
A T-->C substitution at position 402 of the G gamma globin gene results in an isoleucine to threonine substitution at codon 75 of the G gamma globin chain and the formation of HbF-Lesvos [alpha2 G gamma2 75 (E19) Ile-->Thr].
Papadakis
M N
MN
LAIKON General Hospital, Center for Thalassemia, Unit of Prenatal Diagnosis, Athens, Greece.
Patrinos
G P
GP
Drakoulakou
O
O
Loutradi-Anagnostou
A
A
D000595:Amino Acid Sequence; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D005312:Fetal Blood; D005319:Fetal Hemoglobin / Q000235:genetics*; D005914:Globins / Q000235:genetics* / Q000302:isolation & purification; D006115:Greece; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C097990:hemoglobin F Lesvos; D005914:Globins; D005319:Fetal Hemoglobin