Hb Cook [beta 132(H10)Lys-->Thr]: a new hemoglobin variant in a southeast Asian family.
Approximately 700 hemoglobin variants have been reported, causing a variety of clinical manifestations, with the majority being clinically silent. We report a new hemoglobin variant, Hb Cook, that was found in combination with Hb E in a child of Thai origin. DNA sequencing of the beta-globin gene showed that the mutation is AAA-->ACA in codon 132, corresponding to beta 132 (H10)Lys-->Thr.
Hutt
P J
PJ
Department of Laboratory Medicine and Pathology Mayo Clinic, Rochester, MN 55905, USA.
Fairbanks
V F
VF
Griffin
T C
TC
Thibodeau
S N
SN
Green
M M
MM
Hoyer
J D
JD
D001210:Asia, Southeastern; D002851:Chromatography, High Pressure Liquid; D018076:DNA, Complementary; D005260:Female; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D015345:Oligonucleotide Probes; D017354:Point Mutation
D018076:DNA, Complementary; D006455:Hemoglobins, Abnormal; D015345:Oligonucleotide Probes; C104221:hemoglobin Cook; D005914:Globins