HB Hinwil or beta 38(C4)Thr-->Asn: a new beta chain variant detected in a Swiss family.
This paper reports a new hemoglobin variant which was identified while investigating the cause of a mild erythrocytosis. The abnormal beta-globin chain was detected by reversed phase chromatography. Mutation mapping of the beta-globin gene by polymerase chain reaction and denaturing gradient gel electrophoresis followed by sequence analysis revealed a C-->A transversion at codon 38, predicting a Thr-->Asn substitution. Tryptic peptide mapping by liquid chromatography electrospray mass spectrometry, followed by conventional Edman peptide sequence analysis, confirmed the predicted amino acid substitution. In contrast to the only other known mutation at codon 38, Hb Hazebrouck (Thr-->Pro), this hemoglobin is stable and shows elevated oxygen affinity.
Frischknecht
H
H
Universitätskinderklinik, Haematologie, Zürich, Switzerland.
Ventruto
M
M
Hess
D
D
Hunziker
P
P
Rosatelli
M C
MC
Cao
A
A
Breitenstein
U
U
Fehr
J
J
Tuchschmid
P
P
D000595:Amino Acid Sequence; D001216:Asparagine / Q000737:chemistry*; D001483:Base Sequence; D002851:Chromatography, High Pressure Liquid; D003062:Codon; D005260:Female; D014644:Genetic Variation; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D013058:Mass Spectrometry / Q000379:methods; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009862:Online Systems; D011086:Polycythemia / Q000235:genetics*; D013557:Switzerland; D013912:Threonine / Q000737:chemistry*
D003062:Codon; D006455:Hemoglobins, Abnormal; C103888:hemoglobin Hinwil; D013912:Threonine; D001216:Asparagine; D005914:Globins