Two new hemoglobin variants: Hb Tallahassee [α3(A1)Ser→Tyr; HBA2: c.11C>A] and Hb madison-NC [β119(GH2)Gly→Ser; HBB: c.358G>A].
Of the 1570 reported hemoglobin (Hb) variants detected to date, 390 are α2-globin chain (some variants have yet to be identified by DNA analyses and are therefore presumed) and 827 are the result of mutations of the β-globin chain. Due to their location on the Hb structure, only a minority of these variants result in a clinical phenotype; most are silent and are detected during routine surveillance, are found incidentally during other disease-related investigations or following newborn screening programs. In this report we discuss phenotype/genotype and molecular characteristics of two new Hb variants, both of which were clinically silent. One is an α2-globin chain variant located at codon 3 [α3(A1)Ser→Tyr; HBA2: c.11C > A] named Hb Tallahassee and the other is a β-globin chain variant located at codon 119 [β119(GH2)Gly→Ser; HBB: c.358G > A] called Hb Madison-NC.
Department of Medicine, Medical College of Georgia/Georgia Regents University , Augusta, Georgia , USA.
Ferdane
F
Kutlar
Yoram
Y
Unguru
Natalia
N
Dixon
Niren
N
Patel
Lakiea
L
Bailey
Lina
L
Zhuang
Harris
H
Carmichael
Abdullah
A
Kutlar
D002648:Child; D003062:Codon / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010641:Phenotype; D055542:alpha-Globins / Q000235:genetics*
D003062:Codon; D006455:Hemoglobins, Abnormal; D055542:alpha-Globins
Hemoglobin; new; variant