Hemoglobin Titusville, a low oxygen affinity variant hemoglobin, in a family of Northern European background.
We report the second case of Hb Titusville in a family of Northern European background. This variant hemoglobin caused by an alpha-globin gene mutation has decreased oxygen affinity. Correct diagnosis is clinically important to spare affected individuals extensive investigations into other causes of low oxygen saturation in peripheral blood.
Luo
Hong-Yuan
HY
Hemoglobin Diagnostic Reference Laboratory, Boston Medical Center, Boston, Massachusetts 02118, USA.
Irving
Ian
I
Prior
John
J
Lim
Erna
E
Eung
Shawn H
SH
Skelton
Timothy P
TP
Erber
Wendy N
WN
Steinberg
Martin H
MH
Chui
David H K
DH
D000328:Adult; D019943:Amino Acid Substitution; D001483:Base Sequence; D005060:Europe; D005260:Female; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007231:Infant, Newborn; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010100:Oxygen / Q000097:blood*; D010375:Pedigree
D006455:Hemoglobins, Abnormal; D005914:Globins; D010100:Oxygen