期刊
HEMOGLOBIN
卷 35, 期 1, 页码 22-27出版社
INFORMA HEALTHCARE
DOI: 10.3109/03630269.2011.552380
关键词
Abnormal hemoglobin (Hb); High oxygen affinity Hb; Erythrocytosis; Oxygen dissociation curve
A new high oxygen affinity hemoglobin (Hb) variant, Hb Nebraska [beta 86(F2)Ala -> Ile,GCC > ATC; HGVS: HBB: c.259G > A;260C > T] is reported. This variant was not identified by routine methods and was only suspected due to erythrocytosis and an abnormal p50 value. The variant was analyzed by DNA sequencing and mass spectrometry (MS). The beta chain variant is unusual in that it has two nucleotide substitutions occurring at the same codon.
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